Search Results: Deficiency diseases

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Deficiency
Sabtu, 2024-03-09 15:54:58

Look up deficiency in Wiktionary, the free dictionary. A deficiency is generally a lack of something. It may also refer to: A deficient number, in mathematics...

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Malnutrition
Sabtu, 2026-05-30 16:51:43

too many nutrients, resulting in health problems. Specifically, it is a deficiency, excess, or imbalance of energy, protein and other nutrients which adversely...

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Anemia
Rabu, 2026-06-03 16:47:58

donation. Causes of decreased production include iron deficiency, folate deficiency, vitamin B12 deficiency, thalassemia and a number of bone marrow tumors...

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Vitamin B12 deficiency
Minggu, 2026-06-07 02:04:29

Vitamin B12 deficiency, also known as cobalamin deficiency, is the medical condition in which the blood and tissues have a lower than normal level of vitamin...

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Thiamine deficiency
Jumat, 2026-04-03 08:08:26

Thiamine deficiency is a medical condition of low levels of thiamine (vitamin B1). A severe and chronic form is known as beriberi. The name beriberi was...

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Glucose-6-phosphate dehydrogenase deficiency
Selasa, 2026-05-05 05:21:27

Glucose-6-phosphate dehydrogenase deficiency (G6PDD), also known as favism, is the most common enzyme deficiency anemia worldwide. It is an inborn error...

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Vitamin D deficiency
Jumat, 2026-04-17 18:37:32

Vitamin D deficiency or hypovitaminosis D is a vitamin D level that is below normal. It most commonly occurs in people when they have inadequate exposure...

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Deficiency judgment
Minggu, 2026-02-22 16:52:19

A deficiency judgment is an unsecured money judgment against a borrower whose mortgage foreclosure sale did not produce sufficient funds to pay the underlying...

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Zinc deficiency
Minggu, 2026-04-19 17:53:24

Zinc deficiency is defined either as insufficient body levels of zinc to meet the needs of the body, or as a zinc blood level below the normal range. However...

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Iodine deficiency
Sabtu, 2026-03-07 05:57:45

Iodine deficiency is a lack of the trace element iodine, an essential nutrient in the diet. It may result in metabolic problems such as goiter, sometimes...

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5α-Reductase 2 deficiency
Kamis, 2026-04-02 22:48:28

5α-Reductase 2 deficiency (5αR2D) is an autosomal recessive condition caused by mutations impairing the function of SRD5A2, a gene located on chromosome...

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Color blindness
Senin, 2026-06-01 18:51:20

Color blindness or color vision deficiency (CVD) is the decreased ability to see color, differences in color, or distinguish shades of color. The severity...

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Iron-deficiency anemia
Selasa, 2026-04-21 02:53:38

Iron-deficiency anemia is anemia caused by a lack of iron. Anemia is defined as a decrease in the number of red blood cells or the amount of hemoglobin...

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Dopamine beta hydroxylase deficiency
Jumat, 2026-05-22 04:17:30

Dopamine beta (β)-hydroxylase deficiency is a human medical condition involving inadequate dopamine beta-hydroxylase. It is characterized by increased...

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Pernicious anemia
Sabtu, 2026-02-07 07:01:25

anemia is a disease where not enough red blood cells are produced due to a deficiency of vitamin B12. Those affected often have a gradual onset. The most common...

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Dwarfism
Kamis, 2026-06-04 14:07:37

a genetic disorder whereby the limbs are diminutive. Growth hormone deficiency is responsible for most other cases. There are many other less common...

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Deficiency (medicine)
Jumat, 2026-03-27 16:39:01

can have chromosomal deficiencies, mental deficiencies, nutritional deficiencies, complement deficiencies, or enzyme deficiencies. Protein-energy malnutrition...

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Growth hormone deficiency
Senin, 2026-05-11 04:56:00

Growth hormone deficiency (GHD), or hyposomatotropism, is a medical condition resulting from not enough growth hormone (GH). Generally the most noticeable...

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Fumarase deficiency
Selasa, 2026-02-24 00:53:05

Fumarase deficiency (or fumaric aciduria) is an exceedingly rare autosomal recessive metabolic disorder in the Krebs cycle, characterized by a deficiency of...

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HIV/AIDS
Sabtu, 2026-05-02 13:18:13

documented deficiency. Dietary supplementation for people who are infected with HIV and who have inadequate nutrition or dietary deficiencies may strengthen...

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Iron deficiency
Sabtu, 2026-05-30 21:52:52

Iron deficiency, or sideropenia, is the state in which a body lacks enough iron to supply its needs. Iron is present in all cells in the human body and...

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Dihydropteridine reductase deficiency
Selasa, 2025-09-30 20:12:03

Dihydropteridine reductase deficiency (DHPRD) is a genetic disorder affecting the tetrahydrobiopterin (BH4) synthesis pathway, inherited in the autosomal...

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Vitamin B12
Minggu, 2026-05-31 02:25:47

administered via intramuscular injection to treat deficiencies. In healthy adults, vitamin B12 deficiency is not common, mainly because body stores of the...

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Folate deficiency
Sabtu, 2025-11-29 14:10:22

Folate deficiency, also known as vitamin B9 deficiency, is a low level of folate and derivatives in the body. This may result in megaloblastic anemia...

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Alpha-1 antitrypsin deficiency
Kamis, 2026-01-01 11:47:27

Alpha-1 antitrypsin deficiency (A1AD or AATD) is a genetic disorder that may result in lung disease or liver disease. Onset of lung problems is typically...

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B vitamins
Rabu, 2026-04-01 11:33:25

needed] In cases of severe deficiency, B vitamins, especially B12, may also be delivered by injection to reverse deficiencies.[unreliable medical source...

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Thiamine
Senin, 2026-06-08 02:52:08

Supplements and medications are available to treat and prevent thiamine deficiency and the disorders that result from it such as beriberi and Wernicke encephalopathy...

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Magnesium deficiency
Senin, 2026-02-02 10:42:56

Magnesium deficiency is an electrolyte disturbance in which there is a low level of magnesium in the body. Symptoms include tremor, poor coordination,...

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Vitamin A deficiency
Minggu, 2026-04-12 09:35:40

Vitamin A deficiency (VAD) or hypovitaminosis A is a lack of vitamin A in blood and tissues. It is common in poorer countries, especially among children...

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Ironmouse
Senin, 2026-06-01 23:25:54

and has held fundraisers and served as a spokesperson for the Immune Deficiency Foundation. In 2024, she became the most-subscribed Twitch streamer of...

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Vitamin D
Selasa, 2026-06-02 00:22:50

prevent or treat vitamin D deficiency rickets and osteomalacia. There are many other health conditions linked to vitamin D deficiency. However, the evidence...

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Citrin deficiency
Jumat, 2026-04-24 20:25:42

Citrin deficiency (CD) is an inherited autosomal recessive metabolic condition and a urea cycle disorder. Citrin deficiency is a complex disorder with...

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Riboflavin
Rabu, 2026-05-20 22:32:39

of migraine headaches in adults. Riboflavin deficiency is rare and is usually accompanied by deficiencies of other vitamins and nutrients. It may be prevented...

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Butyrylcholinesterase deficiency
Senin, 2026-03-23 19:55:21

Butyrylcholinesterase deficiency (also known as pseudocholinesterase deficiency, and Succinylcholine Sensitivity is an autosomal recessive inherited blood...

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Copper deficiency
Senin, 2025-11-10 18:39:40

Copper deficiency, or hypocupremia, is defined as insufficient copper to meet the body's needs, or as a serum copper level below the normal range. Symptoms...

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Attention deficit hyperactivity disorder
Jumat, 2026-05-29 02:58:44

been found to be more common in those with ADHD and is often due to iron-deficiency anaemia. However, restless legs can simply be a part of ADHD and requires...

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GLUT1 deficiency
Rabu, 2025-10-01 09:06:40

GLUT1 deficiency syndrome, also known as GLUT1-DS, De Vivo disease or Glucose transporter type 1 deficiency syndrome, is an autosomal dominant genetic...

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Nutrient deficiency
Selasa, 2018-12-18 08:43:58

Nutrient deficiency may refer to: Malnutrition, a condition in animals that results from a diet deficient in calories and/or essential nutrients Micronutrient...

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Porphyria
Rabu, 2026-05-06 11:17:02

the specific mutation. Hepatic porphyrias are those in which the enzyme deficiency occurs in the liver. Hepatic porphyrias include acute intermittent porphyria...

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Vitamin B6
Senin, 2026-04-20 20:54:40

vegetarian or vegan diet does not put consumers at risk for deficiency. Dietary deficiency is rare. Classic clinical symptoms include rash and inflammation...

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Calcium deficiency (plant)
Sabtu, 2026-03-28 01:30:25

Calcium (Ca) deficiency is a plant disorder that can be caused by insufficient level of biologically available calcium in the growing medium, but is more...

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Vitamin deficiency
Selasa, 2026-06-02 00:22:55

Vitamin deficiency is the condition of a long-term lack of a vitamin. When caused by not enough vitamin intake it is classified as a primary deficiency, whereas...

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Electron deficiency
Selasa, 2025-06-24 08:49:02

In chemistry, electron deficiency (and electron-deficient) is jargon that is used in two contexts: chemical species that violate the octet rule because...

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Aromatase deficiency
Senin, 2026-04-13 09:57:20

Aromatase deficiency is a rare condition characterized by extremely low levels or complete absence of the enzyme aromatase activity in the body. It is...

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Cerebral creatine deficiency
Jumat, 2025-07-18 01:29:33

Cerebral creatine deficiencies (CCDs) are a small group of inherited disorders that result from defects in creatine biosynthesis and transport. Commonly...

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Ornithine transcarbamylase deficiency
Jumat, 2026-03-13 01:31:38

Ornithine transcarbamylase deficiency also known as OTC deficiency is the most common urea cycle disorder in humans. Ornithine transcarbamylase, the defective...

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Adenosine deaminase deficiency
Rabu, 2025-11-19 05:06:31

Adenosine deaminase deficiency (ADA deficiency) is a metabolic disorder that causes immunodeficiency. It is caused by mutations in the ADA gene. It accounts...

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Abetalipoproteinemia
Senin, 2026-06-08 07:27:15

microsomal triglyceride transfer protein deficiency disease, MTP deficiency, and betalipoprotein deficiency syndrome) is a disorder characterized by abnormal...

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Biotin deficiency
Selasa, 2026-05-12 21:58:38

Biotin deficiency is a nutritional disorder which can become serious, even fatal, if allowed to progress untreated. It can occur in people of any age,...

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Vitamin A
Senin, 2026-04-13 03:19:34

of genes. Vitamin A deficiency is common in developing countries, especially in Sub-Saharan Africa and Southeast Asia. Deficiency can occur at any age...

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Scurvy
Minggu, 2026-05-10 19:56:25

scorbutus is a deficiency disease (state of malnutrition) resulting from a lack of vitamin C (ascorbic acid). Early symptoms of deficiency include weakness...

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Congenital hypothyroidism due to iodine deficiency
Jumat, 2026-05-29 07:03:29

Congenital hypothyroidism due to iodine deficiency (ICD-11), or congenital iodine deficiency syndrome (CIDS, ICD-10), is a medical condition present at...

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Vitamin
Kamis, 2026-05-28 09:16:37

If there is serious deficiency in one or more of these nutrients, a child may develop a deficiency disease. Even minor deficiencies may cause permanent...

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Cerebral folate deficiency
Selasa, 2025-09-30 14:15:45

Cerebral folate deficiency (CFD) is a condition in which concentrations of 5-methyltetrahydrofolate (5-MTHF) are low in the brain as measured in the cerebral...

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Nitrogen deficiency
Selasa, 2026-01-27 06:15:05

Nitrogen deficiency is a medical condition where a plant is unable to obtain enough nitrogen from the soil. This can lead to stunting, lack of flowering...

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Immunodeficiency
Kamis, 2026-03-12 03:59:58

reduced protection afforded by vaccines. Humoral immune deficiency (including B cell deficiency or dysfunction), with signs or symptoms depending on the...

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Potassium deficiency (plants)
Sabtu, 2026-04-04 02:38:34

Potassium deficiency, also known as potash deficiency, is a plant disorder caused by the depletion of potassium ions (K+) in the soil. Potassium deficiency causes...

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Calcium deficiency
Selasa, 2026-05-05 19:24:06

Calcium deficiency may refer to: Calcium deficiency (plant disorder) Hypocalcemia, a medical condition in humans where the Calcium blood serum levels...

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Biotinidase deficiency
Kamis, 2025-08-21 00:48:09

Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from proteins in the diet during digestion or from...

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Boron deficiency (plant disorder)
Sabtu, 2026-04-11 16:16:49

Boron deficiency is a common deficiency of the micronutrient boron in plants. It is the most widespread micronutrient deficiency around the world and causes...

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Lactose intolerance
Selasa, 2026-05-19 20:58:08

not an immune response, but rather a sensitivity to dairy caused by a deficiency of lactase enzyme. Milk allergy, occurring in about 2% of the population...

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Vitamin K
Selasa, 2026-06-02 15:31:38

intermediate. The presence of uncarboxylated proteins indicates a vitamin K deficiency. Carboxylation allows them to bind (chelate) calcium ions, which they...

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Hemoglobin
Selasa, 2026-05-19 08:18:14

may cause both. In any case, hemoglobin deficiency decreases blood oxygen-carrying capacity. Hemoglobin deficiency is, in general, strictly distinguished...

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T cell deficiency
Sabtu, 2026-05-30 06:41:52

T cell deficiency is a deficiency of T cells, caused by decreased function of individual T cells, it causes an immunodeficiency of cell-mediated immunity...

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Hexokinase deficiency
Kamis, 2024-10-31 19:33:57

Hexokinase deficiency is an extremely rare autosomal recessive condition that falls under the category of erythroenzymopathies, or defects in red cell...

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Androgen deficiency
Kamis, 2025-07-17 22:54:34

Androgen deficiency is a medical condition characterized by insufficient androgenic activity in the body. Androgen deficiency most commonly affects women...

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Coercive deficiency
Minggu, 2025-03-09 20:31:17

In United States federal government finance, coercive deficiency is a process by which budget holders can allow themselves to run out of money prior to...

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Mineral deficiency
Sabtu, 2025-05-24 05:10:14

These deficiencies can result in many disorders including anemia and goitre. Examples of mineral deficiency include zinc deficiency, iron deficiency, and...

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Latent iron deficiency
Jumat, 2025-07-18 00:10:00

Latent iron deficiency (LID), also called iron-deficient erythropoiesis, is a medical condition in which there is evidence of iron deficiency without anemia...

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Phosphofructokinase deficiency
Rabu, 2026-02-11 13:37:27

Phosphofructokinase deficiency is a rare muscular metabolic disorder, with an autosomal recessive inheritance pattern. It is characterized as a deficiency in the Phosphofructokinase...

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Glucocorticoid deficiency
Minggu, 2026-05-03 00:48:58

Glucocorticoid deficiency is a condition where the body does not produce enough glucocorticoid hormones. Symptoms of glucocorticoid deficiency (having not...

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GATA2 deficiency
Rabu, 2025-01-29 08:18:23

GATA2 deficiency is a grouping of several disorders caused by common defect, namely, familial or sporadic inactivating mutations in one of the two parental...

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Pyruvate kinase deficiency
Senin, 2025-12-01 20:41:37

Pyruvate kinase deficiency (PKD) is an inherited metabolic disorder of the enzyme pyruvate kinase which affects the survival of red blood cells. Both autosomal...

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CD55 deficiency
Rabu, 2024-10-16 22:30:13

CD55 deficiency, also called DAF deficiency or CHAPLE syndrome, is a rare genetic disorder of the immune system. CHAPLE stands for "CD55 deficiency with...

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PMM2 deficiency
Kamis, 2026-06-04 16:20:20

PMM2 deficiency or PMM2-CDG, previously CDG-Ia, is a very rare genetic disorder caused by mutations in PMM2. It is an autosomal recessive disease that...

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Cant deficiency
Jumat, 2025-10-31 16:07:05

In railway engineering, cant deficiency is defined in the context of travel of a rail vehicle at constant speed on a constant-radius curve. Cant itself...

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Choline
Selasa, 2026-05-05 22:04:34

SAM is transformed into S-adenosyl homocysteine. Symptomatic choline deficiency causes non-alcoholic fatty liver disease and muscle damage. Excessive...

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Goitre
Senin, 2026-05-11 11:00:27

functioning properly. Worldwide, over 90% of goitre cases are caused by iodine deficiency. The term is from the Latin gutturia, meaning throat. Most goitres are...

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Deficiency (statistics)
Selasa, 2025-10-28 19:59:40

In statistics, the deficiency is a measure to compare a statistical model with another statistical model. The concept was introduced in the 1960s by the...

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Potassium deficiency
Selasa, 2025-09-09 02:41:11

Potassium deficiency may refer to: Hypokalemia in humans Potassium deficiency (plants) This disambiguation page lists articles associated with the title...

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Micronutrient deficiency
Senin, 2026-04-13 08:32:08

Micronutrient deficiency is defined as the sustained insufficient supply of vitamins and minerals needed for growth and development, as well as to maintain...

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Plant nutrition
Sabtu, 2026-05-23 22:48:58

be useful in identifying a deficiency are rare. Most deficiencies are multiple and moderate. However, while a deficiency is seldom that of a single nutrient...

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Iron polymaltose
Jumat, 2026-05-15 11:38:50

Iron(III)-hydroxide polymaltose complex is a medication used to treat iron deficiency / iron deficiency anemia and belongs to the group of oral iron preparations. The...

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LRBA deficiency
Kamis, 2025-07-17 00:50:08

LRBA deficiency is a rare genetic disorder of the immune system. This disorder is caused by a mutation in the gene LRBA. LRBA stands for “lipopolysaccharide...

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Factor XII deficiency
Selasa, 2025-05-27 11:04:31

Factor XII deficiency is a deficiency in the production of factor XII (FXII), a plasma glycoprotein and clotting factor that participates in the coagulation...

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Selenium deficiency
Rabu, 2025-03-12 16:38:10

Selenium deficiency occurs when an organism lacks the required levels of selenium, a critical nutrient in many species. Deficiency, although relatively...

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Intellectual disability
Kamis, 2026-05-21 01:55:30

to natural deficiency and governmental inaction, are severely affected by iodine deficiency. India has 500 million people with a deficiency, 54 million...

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Isolated 17,20-lyase deficiency
Selasa, 2026-03-03 00:59:33

Isolated 17,20-lyase deficiency (ILD), also called isolated 17,20-desmolase deficiency, is a rare endocrine and autosomal recessive genetic disorder which...

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Deficiency (graph theory)
Jumat, 2025-11-14 07:08:03

Deficiency is a concept in graph theory that is used to refine various theorems related to perfect matching in graphs, such as Hall's marriage theorem...

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Myeloperoxidase deficiency
Minggu, 2025-09-28 02:55:00

Myeloperoxidase deficiency is a disorder featuring lack in either the quantity or the function of myeloperoxidase–an iron-containing protein expressed...

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Selective immunoglobulin A deficiency
Selasa, 2026-03-31 11:24:38

immunoglobulin A (IgA) deficiency (SIgAD) is a kind of immunodeficiency, a type of hypogammaglobulinemia. People with this deficiency lack immunoglobulin...

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Phenylketonuria
Sabtu, 2026-05-16 23:16:00

renal insufficiency, osteoporosis, gastritis, esophagus, and kidney deficiencies, kidney stones, and hypertension. Additionally, mood disorders occur...

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DOCK8 deficiency
Sabtu, 2025-12-13 18:24:01

DOCK8 deficiency, also called DOCK8 immunodeficiency syndrome, is the autosomal recessive form of hyperimmunoglobulin E syndrome, a genetic disorder characterized...

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Boron deficiency
Sabtu, 2019-12-28 05:10:33

Boron deficiency may refer to: Boron deficiency (plant disorder), a nutritional disorder in plants Boron deficiency (medicine), a nutritional disorder...

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Hyperlipidemia
Selasa, 2025-11-25 00:38:00

hyperlipoproteinemia exists in several forms: Lipoprotein lipase deficiency (type Ia), due to a deficiency of lipoprotein lipase (LPL) or altered apolipoprotein...

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Vitamin K deficiency
Kamis, 2026-01-29 08:13:36

Vitamin K deficiency results from insufficient dietary vitamin K1 or vitamin K2 or both. Symptoms include bruising, petechiae, and hematomas. Vitamin K...

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Ishihara test
Selasa, 2026-05-12 02:48:28

Ishihara test is a color vision test for detection of red–green color deficiencies. It was named after its designer, Shinobu Ishihara, a professor at the...

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Pyruvate dehydrogenase deficiency
Rabu, 2026-03-11 07:37:39

Pyruvate dehydrogenase deficiency (also known as pyruvate dehydrogenase complex deficiency or PDCD or PDH deficiency) is a rare neurodegenerative disorder...

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Iodine deficiency in China
Senin, 2025-11-03 03:11:15

Iodine deficiency is a widespread problem in western, southern and eastern parts of China, as their iodized salt intake level is much lower than the average...

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3-Methylcrotonyl-CoA carboxylase deficiency
Sabtu, 2025-09-20 09:36:44

3-Methylcrotonyl-CoA carboxylase deficiency also known as 3-Methylcrotonylglycinuria is an inborn error of leucine metabolism and is inherited through...

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Vitamin D deficiency in Australia
Jumat, 2025-10-10 21:03:00

Vitamin D deficiency in Australia has been estimated as afflicting nearly one-quarter of all adults. Vitamin D plays an important role in which it supports...

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Protein C deficiency
Sabtu, 2026-02-28 04:47:41

Protein C deficiency is a rare genetic trait that predisposes to thrombotic disease. It was first described in 1981. The disease belongs to a group of...

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Mitochondrial complex II deficiency
Rabu, 2026-03-25 20:22:42

Mitochondrial complex II deficiency, also called CII deficiency, is a rare mitochondrial disease caused by deficiency of mitochondrial complex II, also...

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Alcohol flush reaction
Sabtu, 2026-05-02 02:00:08

catabolic metabolism of alcohol, and is caused by an aldehyde dehydrogenase 2 deficiency. This syndrome has been associated with lower than average rates of alcoholism...

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Molybdenum cofactor deficiency
Sabtu, 2025-11-15 04:30:36

Molybdenum cofactor deficiency is a rare human disease in which the absence of molybdopterin – and consequently its molybdenum complex, commonly called...

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Folate
Minggu, 2026-06-07 11:31:24

Folate in the form of folic acid is used to treat anemia caused by folate deficiency. Folic acid is also used as a supplement by women during pregnancy to...

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Pagophagia
Minggu, 2026-05-10 03:16:20

nutritional deficiency. Similarly, folk wisdom also maintained that pica reflected an appetite to compensate for nutritional deficiencies, such as low...

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Complement deficiency
Jumat, 2026-05-29 06:47:12

Complement deficiency is an immunodeficiency of absent or suboptimal functioning of one of the complement system proteins. Because of redundancies in the...

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5,10-methenyltetrahydrofolate synthetase deficiency
Senin, 2025-09-29 12:59:00

5,10-Methenyltetrahydrofolate synthetase deficiency (MTHFS deficiency) is a rare neurodevelopmental disorder caused by mutations affecting the MTHFS gene...

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Hypopituitarism
Sabtu, 2025-11-01 13:49:16

treat them directly. Deficiency of all anterior pituitary hormones is more common than individual hormone deficiency. Deficiency of luteinizing hormone...

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Tetrahydrobiopterin deficiency
Rabu, 2025-12-24 13:30:49

Tetrahydrobiopterin deficiency (THBD, BH4D) is a rare metabolic disorder that increases the blood levels of phenylalanine. Phenylalanine is an amino acid...

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Branched-chain keto acid dehydrogenase kinase deficiency
Rabu, 2026-05-20 19:11:44

dehydrogenase kinase deficiency (BCKDK deficiency) is a disease resulting from mutations of the BCKDK gene. Patients with BCKDK deficiency have low levels...

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Phosphorus deficiency
Jumat, 2025-03-21 20:35:36

Phosphorus deficiency is a plant disorder associated with insufficient supply of phosphorus. Phosphorus refers here to salts of phosphates (PO3−4), monohydrogen...

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Vitamin E deficiency
Senin, 2025-10-06 20:04:29

Vitamin E deficiency is a rare condition caused by low levels of vitamin E that may result from malabsorption disorders (such as abetalipoproteinemia,...

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Rh deficiency syndrome
Kamis, 2025-06-26 18:43:13

Rh deficiency syndrome is a type of hemolytic anemia that involves erythrocytes whose membranes are deficient in Rh antigens. It is considered a rare condition...

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Isolated hypogonadotropic hypogonadism
Selasa, 2025-12-09 02:18:18

hormone deficiency (IGD), is a condition which results in a small subset of cases of hypogonadotropic hypogonadism (HH) due to deficiency in or insensitivity...

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Antithrombin III deficiency
Jumat, 2026-04-10 03:39:54

Antithrombin III deficiency (abbreviated ATIII deficiency) is a deficiency of antithrombin III. This deficiency may be inherited or acquired. It is a rare...

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Homocystinuria
Minggu, 2025-09-28 05:48:52

inherited disorder of the metabolism of the amino acid methionine due to a deficiency of cystathionine beta synthase or methionine synthase. It is an inherited...

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Humoral immune deficiency
Jumat, 2026-05-29 07:48:50

agammaglobulinemia (btk deficiency, or Bruton's agammaglobulinemia), μ-Heavy chain deficiency, l 5 deficiency, Igα deficiency, BLNK deficiency, thymoma with immunodeficiency...

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History of HIV/AIDS
Rabu, 2026-06-03 04:36:53

agent. The syndrome was initially termed "GRID", or "gay-related immune deficiency"; other less common gay-specific terms included "gay compromise syndrome"...

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Deficiency payments
Senin, 2022-02-07 03:44:36

In the United States, deficiency payments are direct government payments made to farmers who participated in annual commodity programs for wheat, feed...

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Lucky iron fish
Selasa, 2025-11-25 15:46:07

provide dietary supplementation of iron to individuals affected by iron-deficiency anemia. The ingots are placed in a pot of boiling water to leach elemental...

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Adrenal insufficiency
Kamis, 2025-07-17 22:15:58

in regulating blood pressure, electrolytes, and metabolism as a whole. Deficiency of these hormones leads to symptoms ranging from abdominal pain, vomiting...

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Protein S deficiency
Sabtu, 2026-05-30 06:01:20

Protein S deficiency is a disorder associated with increased risk of venous thrombosis. Protein S, a vitamin K-dependent physiological anticoagulant, acts...

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Holocarboxylase synthetase deficiency
Senin, 2025-12-29 10:42:28

Holocarboxylase synthetase deficiency is an inherited metabolic disorder in which the body cannot use the vitamin biotin effectively. This disorder is...

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Vitamin K deficiency bleeding
Minggu, 2026-05-10 15:53:09

Vitamin K deficiency bleeding (VKDB) of the newborn, previously known as haemorrhagic disease of the newborn, is a rare form of bleeding disorder that...

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Phenol sulfur transferase deficiency
Rabu, 2026-05-20 18:17:54

Phenol sulfur transferase deficiency, in short PST deficiency, is the lack or the reduced activity of the functional enzyme phenol sulfur transferase...

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Lecithin cholesterol acyltransferase deficiency
Jumat, 2026-02-06 14:24:46

deficiency is a disorder of lipoprotein metabolism. The disease has two forms: Familial LCAT deficiency, in which there is complete LCAT deficiency,...

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Lipoprotein lipase deficiency
Kamis, 2025-07-17 04:26:36

Lipoprotein lipase deficiency is a genetic disorder in which a person has a defective gene for lipoprotein lipase, which leads to very high triglycerides...

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Methylenetetrahydrofolate reductase deficiency
Senin, 2026-06-08 10:19:38

Methylenetetrahydrofolate reductase deficiency is the most common genetic cause of elevated serum levels of homocysteine (hyperhomocysteinemia). It is...

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Leukocyte adhesion deficiency
Minggu, 2025-09-21 01:52:32

Leukocyte adhesion deficiency (LAD) is a rare autosomal recessive disorder characterized by immunodeficiency resulting in recurrent infections. LAD is...

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Hypermethioninemia
Senin, 2026-02-09 10:33:15

converted back to methionine or into another amino acid, cysteine. A deficiency of any of these enzymes results in a buildup of methionine in the body...

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Hyponatremia
Minggu, 2026-06-07 08:47:04

glucocorticoid and mineralocorticoid deficiency) Isolated hyperchlorhidrosis (Carbonic anhydrase XII deficiency), a rare genetic disorder which results...

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Hyaluronidase deficiency
Rabu, 2025-11-12 05:14:31

Hyaluronidase deficiency, also known as Mucopolysaccharidosis type IX or MPS IX, is a condition caused by mutations in the HYAL1 gene, and is characterized...

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Beta-ketothiolase deficiency
Senin, 2025-12-29 10:39:36

Beta-ketothiolase deficiency is a rare, autosomal recessive metabolic disorder in which the body cannot properly process the amino acid isoleucine or the...

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WNT4 deficiency
Selasa, 2023-11-28 07:50:11

WNT4 deficiency is a rare genetic disorder that affects females and it results in the underdevelopment and sometimes absence of the uterus and vagina....

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NEMO deficiency syndrome
Minggu, 2026-03-15 02:45:39

Nuclear factor-kappa B Essential Modulator (NEMO) deficiency syndrome is a rare type of primary immunodeficiency disease that has a highly variable set...

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Ribose-5-phosphate isomerase deficiency
Minggu, 2025-11-09 01:34:03

Ribose-5-phosphate isomerase deficiency (RPID) is an extremely rare human disorder caused by mutations in ribose-5-phosphate isomerase, an enzyme of the...

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Luteal phase
Minggu, 2026-02-08 00:11:19

The menstrual cycle is on average 28 days in length. It begins with menses (day 1–7) during the follicular phase (day 1–14), followed by ovulation (day...

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Complement 2 deficiency
Jumat, 2025-07-18 02:31:37

Complement 2 deficiency is a type of complement deficiency caused by any one of several different alterations in the structure of complement component...

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Fibrinogen deficiency
Minggu, 2025-11-23 03:34:43

Fibrinogen deficiency, also known as factor I deficiency, is a rare inherited bleeding disorder related to fibrinogen function in the coagulation cascade...

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Creatine transporter defect
Senin, 2025-12-15 09:14:25

Creatine transporter deficiency (CTD) is an inborn error of creatine metabolism in which creatine is not properly transported to the brain and muscles...

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Clinical endocannabinoid deficiency syndrome
Kamis, 2026-03-05 10:46:37

Clinical endocannabinoid deficiency (CECD) is a medical theory that proposes that a deficiency of endocannabinoids is the underlying pathophysiology of...

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Motivational deficiency disorder
Kamis, 2025-12-11 12:22:47

Motivational deficiency disorder is the name of a fake disease introduced on April Fool's Day 2006 as part of a health campaign to raise awareness of disease...

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Molybdenum deficiency
Kamis, 2025-12-11 11:32:54

Molybdenum deficiency refers to the clinical consequences of inadequate intake of molybdenum in the diet. Because the amount of molybdenum required is...

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Carbamoyl phosphate synthetase I deficiency
Kamis, 2025-12-25 20:47:53

Carbamoyl phosphate synthetase I deficiency (CPS I deficiency) is an autosomal recessive metabolic disorder that causes ammonia to accumulate in the blood...

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Coenzyme Q10 deficiency
Senin, 2025-09-29 19:51:30

Coenzyme Q10 deficiency is a deficiency of coenzyme Q10. It can be associated with mutations in COQ2, APTX, PDSS2, PDSS1, CABC1, and COQ9. Some forms may...

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CDKL5 deficiency disorder
Kamis, 2026-05-14 16:40:08

CDKL5 deficiency disorder (CDD) is a rare genetic disorder caused by pathogenic variants in the gene CDKL5. The symptoms of CDD include early infantile...

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Aromatic L-amino acid decarboxylase deficiency
Minggu, 2026-04-26 10:39:51

Aromatic L-amino acid decarboxylase deficiency, also known as AADC deficiency, is a rare genetic disorder caused by mutations in the DDC gene, which encodes...

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Arginine:glycine amidinotransferase deficiency
Rabu, 2025-08-13 19:52:42

Arginine:glycine amidinotransferase deficiency or AGAT deficiency is an autosomal recessive cerebral creatine deficiency caused by a deficiency of the enzyme arginine:glycine...

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Iodised salt
Kamis, 2026-05-28 22:43:32

iodine salts. The ingestion of iodine prevents iodine deficiency. Worldwide, iodine deficiency affects about two billion people and is the leading preventable...

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Working capital
Selasa, 2026-06-02 04:27:15

assets are less than current liabilities, an entity has a working capital deficiency, also called a working capital deficit and negative working capital. A...

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Biotin
Jumat, 2026-05-08 06:33:40

biotin deficiency, meaning deficiency due to too little biotin in the diet, is rare because biotin is contained in many foods. Subclinical deficiency can...

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Retinol
Selasa, 2026-06-02 22:19:03

and meat. As a supplement it is used to treat and prevent vitamin A deficiency, especially that which results in xerophthalmia. It is taken by mouth...

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Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency
Rabu, 2025-12-24 11:24:44

Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency is an uncommon form of congenital adrenal hyperplasia (CAH) resulting from a mutation...

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Late onset congenital adrenal hyperplasia
Kamis, 2025-12-11 02:57:22

present with signs of hyperandrogenism, rather than of glucocorticoid deficiency, a condition characterized by inadequate cortisol production. Cortisol...

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Pellagra
Jumat, 2026-04-17 20:43:29

to several mechanisms, classically as a result of niacin (vitamin B3) deficiency, which results in decreased nicotinamide adenine dinucleotide (NAD). Since...

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Boron deficiency (medicine)
Senin, 2025-10-06 01:11:37

Boron deficiency is a pathology which may occur in animals due to a lack of boron. A report given by E. Wayne Johnson et al. at the 2005 Alan D. Leman...

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Subacute combined degeneration of spinal cord
Jumat, 2025-05-16 03:51:48

result of vitamin B12 deficiency (most common). It may also occur similarly as result of vitamin E deficiency, and copper deficiency. It is usually associated...

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3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
Kamis, 2025-08-14 17:41:43

3-Hydroxy-3-methylglutaryl-CoA lyase deficiency, (HMGCLD) also known as HMGCL deficiency, HMG-CoA lyase deficiency, or hydroxymethylglutaric aciduria,...

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Guanidinoacetate methyltransferase deficiency
Senin, 2026-05-18 23:59:58

Guanidinoacetate methyltransferase deficiency (GAMT deficiency) is an autosomal recessive cerebral creatine deficiency that primarily affects the nervous...

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Adenylosuccinate lyase deficiency
Jumat, 2025-09-19 18:35:07

Adenylosuccinate lyase deficiency is a rare autosomal recessive metabolic disorder characterized by the appearance of succinylaminoimidazolecarboxamide...

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Hypothyroidism
Kamis, 2026-04-09 07:53:53

growth and intellectual development in the baby or congenital iodine deficiency syndrome. Worldwide, too little iodine in the diet is the most common...

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Mental Deficiency Act 1913
Jumat, 2026-05-29 19:51:16

The Mental Deficiency Act 1913 (3 & 4 Geo. 5. c. 28) was an act of the Parliament of the United Kingdom creating provisions for the institutional treatment...

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Aldolase A deficiency
Senin, 2025-08-18 10:14:39

Aldolase A deficiency is an autosomal recessive metabolic disorder resulting in a deficiency of the enzyme aldolase A; the enzyme is found predominantly...

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Galactose epimerase deficiency
Senin, 2023-11-20 21:08:21

Galactose epimerase deficiency, also known as GALE deficiency, Galactosemia III and UDP-galactose-4-epimerase deficiency, is a rare, autosomal recessive...

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Galactokinase deficiency
Jumat, 2025-08-15 13:17:08

Galactokinase deficiency is an autosomal recessive metabolic disorder marked by an accumulation of galactose and galactitol secondary to the decreased...

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Transaldolase deficiency
Selasa, 2025-10-14 18:59:25

Transaldolase deficiency is a disease characterised by abnormally low levels of the transaldolase enzyme. It is a metabolic enzyme involved in the pentose...

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Iron deficiency (disambiguation)
Rabu, 2016-06-29 09:09:53

Iron deficiency is a common nutritional deficiency. Iron deficiency may also refer to: Iron deficiency anemia, decrease of red blood cells caused by a...

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Factor VII deficiency
Kamis, 2025-12-04 14:48:17

Factor VII deficiency is a bleeding disorder characterized by a lack in the production of factor VII (FVII), a protein that causes blood to clot in the...

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Nutritional anemia
Senin, 2026-05-04 00:34:15

Anemia is a deficiency in the size or number of red blood cells or in the amount of hemoglobin they contain. This deficiency limits the exchange of O2...

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ADH deficiency
Jumat, 2026-05-29 23:27:05

ADH deficiency: Aldehyde dehydrogenase 2 deficiency more commonly known as alcohol flush reaction Antidiuretic hormone deficiency more commonly known...

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Dihydropyrimidine dehydrogenase deficiency
Kamis, 2025-07-17 12:05:11

Dihydropyrimidine dehydrogenase deficiency is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of...

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Sepiapterin reductase deficiency
Sabtu, 2025-08-02 16:42:52

Sepiapterin reductase deficiency is an inherited pediatric disorder characterized by movement problems, and most commonly displayed as a pattern of involuntary...

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Systemic primary carnitine deficiency
Minggu, 2026-03-15 11:25:01

Systemic primary carnitine deficiency (SPCD) is an inborn error of fatty acid transport caused by a defect in the transporter responsible for moving carnitine...

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Dopamine
Sabtu, 2026-06-06 03:24:29

the cofactor. Some of the cofactors also require their own synthesis. Deficiency in any required amino acid or cofactor can impair the synthesis of dopamine...

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Hasbulla
Jumat, 2026-06-05 16:26:42

is 102 centimeters (3 feet 4 inches) tall – caused by a growth hormone deficiency, Hasbulla first gained fame in 2021 due to a viral TikTok video, and has...

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Adrenocorticotropic hormone deficiency
Kamis, 2025-07-17 22:16:33

Adrenocorticotropic hormone deficiency is a rare disorder characterized by secondary adrenal insufficiency with minimal or no cortisol production and normal...

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Fabry disease
Minggu, 2026-03-22 23:31:30

lysosomal storage disorder that is caused by a deficiency of alpha-galactosidase A. This enzyme deficiency results in the accumulation of glycosphingolipids...

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Xanthinuria
Jumat, 2025-08-15 15:15:29

known as xanthine oxidase deficiency, is a rare genetic disorder causing the accumulation of xanthine. It is caused by a deficiency of the enzyme xanthine...

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Mitochondrial trifunctional protein deficiency
Jumat, 2026-05-29 18:38:40

Mitochondrial trifunctional protein deficiency (MTP deficiency or MTPD) is an autosomal recessive fatty acid oxidation disorder that prevents the body...

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Fructose bisphosphatase deficiency
Selasa, 2025-07-15 11:11:05

In fructose bisphosphatase deficiency, there is not enough fructose bisphosphatase for gluconeogenesis to occur correctly. Glycolysis (the breakdown of...

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Dihydrofolate reductase deficiency
Selasa, 2026-05-05 05:53:23

Dihydrofolate reductase deficiency (DHFR deficiency) is an ultra-rare condition with less than 20 reported cases within the literature, as of 2025. It...

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6-phosphogluconate dehydrogenase deficiency
Rabu, 2025-11-19 01:58:34

6-Phosphogluconate dehydrogenase deficiency (6PGD deficiency), or partial deficiency, is an autosomal hereditary disease characterized by abnormally low...

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Sanfilippo syndrome
Selasa, 2026-05-26 06:49:03

can also appear as a 5th mutation, type E. This mutation results from a deficiency in the N-glucosamine 3-O-sulfatase, ARSG, gene. Although it has been characterized...

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Hypogonadism
Jumat, 2026-05-22 06:00:44

implies deficiency of reproductive hormones, with or without fertility defects. The term is less commonly used for infertility without hormone deficiency. There...

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Manganese deficiency (plant)
Jumat, 2023-08-25 00:29:28

Manganese (Mn) deficiency is a plant disorder that is often confused with, and occurs with, iron deficiency. Most common in poorly drained soils, also...

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Growth hormone therapy
Senin, 2026-02-09 09:39:20

gigantism), deficiency, the recent phenomenon of HGH controversies, growth hormone in sports, and growth hormone for cows. Growth hormone deficiency is treated...

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Multiple sulfatase deficiency
Jumat, 2025-08-15 18:36:32

Multiple sulfatase deficiency (MSD), also known as Austin disease, or mucosulfatidosis, is a very rare autosomal recessive lysosomal storage disease caused...

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Congenital adrenal hyperplasia
Sabtu, 2026-02-21 05:35:56

disorders characterized by impaired cortisol synthesis. It results from the deficiency of one of the five enzymes required for the synthesis of cortisol in the...

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Ornithine translocase deficiency
Jumat, 2026-03-13 01:39:04

Ornithine translocase deficiency, also called hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome, is a rare autosomal recessive urea cycle...

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Glycerol kinase deficiency
Sabtu, 2025-08-02 09:45:07

kinase deficiency (GKD) is an X-linked recessive enzyme defect that is heterozygous in nature. Three clinically distinct forms of this deficiency have been...

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Factor X deficiency
Selasa, 2025-09-23 23:25:22

Factor X deficiency (X as Roman numeral ten) is a bleeding disorder characterized by a lack in the production of factor X (FX), an enzyme protein that...

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Hypoxia (medicine)
Kamis, 2026-06-04 17:29:28

result, causing 'anaemic hypoxia' if tissue oxygenation is decreased. Iron deficiency is the most common cause of anemia. As iron is used in the synthesis of...

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Antithrombin
Jumat, 2026-05-15 12:33:40

acquired antithrombin deficiencies and an increased risk of any affected individual developing thrombotic disease. Antithrombin deficiency generally comes to...

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6-Pyruvoyltetrahydropterin synthase deficiency
Senin, 2025-12-15 23:19:33

synthase deficiency is an autosomal recessive disorder that causes malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. It is a recessive...

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Carnitine palmitoyltransferase II deficiency
Sabtu, 2026-05-02 13:14:50

Carnitine palmitoyltransferase II deficiency, sometimes shortened to CPT-II or CPT2, is an autosomal recessively inherited genetic metabolic disorder characterized...

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Succinic semialdehyde dehydrogenase deficiency
Sabtu, 2026-05-09 03:07:21

Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare autosomal recessive disorder of the degradation pathway of the inhibitory neurotransmitter...

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Adenine phosphoribosyltransferase deficiency
Rabu, 2025-12-31 10:26:58

Adenine phosphoribosyltransferase deficiency is a rare autosomal recessive metabolic disorder caused by mutations of the APRT gene. Adenine phosphoribosyltransferase...

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D-bifunctional protein deficiency
Rabu, 2024-06-26 02:09:32

D-Bifunctional protein deficiency is an autosomal recessive peroxisomal fatty acid oxidation disorder. Peroxisomal disorders are usually caused by a combination...

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Glycogen storage disease
Senin, 2026-01-12 12:17:28

also glycogenosis and dextrinosis) is a metabolic disorder caused by a deficiency of an enzyme or transport protein affecting glycogen synthesis, glycogen...

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Apolipoprotein B deficiency
Kamis, 2026-04-09 23:07:06

Apolipoprotein B deficiency or "familial hypobetalipoproteinemia" is an autosomal disorder caused by one of several possible mutations, either recessive...

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Relative energy deficiency in sport
Rabu, 2026-01-07 20:00:56

Relative energy deficiency in sport (RED-S) is a syndrome in which disordered eating (or low energy availability), amenorrhoea/oligomenorrhoea (in women)...

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Iron deficiency (plant disorder)
Kamis, 2025-03-13 22:44:28

Iron (Fe) deficiency is a plant disorder also known as "lime-induced chlorosis". It can be confused with manganese deficiency. If soil iron concentration...

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Borderline intellectual functioning
Minggu, 2025-11-23 10:49:02

mental retardation, borderline mental subnormality, borderline mental deficiency, borderline mental disability, borderline intelligence, deficientia intelligentiæ...

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Proximal femoral focal deficiency
Jumat, 2026-03-20 18:13:46

Proximal femoral focal deficiency (PFFD), also known as congenital femoral deficiency (CFD), is a rare, non-hereditary birth defect that affects the pelvis...

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Neutrophil-specific granule deficiency
Selasa, 2026-04-07 05:15:36

Neutrophil-specific granule deficiency (previously known as lactoferrin deficiency) is a rare congenital immunodeficiency characterized by an increased...

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Pyruvate carboxylase deficiency
Rabu, 2025-09-24 14:19:32

Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid to accumulate in the blood. High levels of these substances can damage...

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Ornithine aminotransferase deficiency
Jumat, 2026-03-13 01:38:53

Ornithine aminotransferase deficiency (also known as gyrate atrophy of the choroid and retina) is an inborn error of ornithine metabolism, caused by decreased...

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MBL deficiency
Senin, 2026-04-20 15:25:15

MBL deficiency or mannose-binding lectin deficiency is an illness that has an impact on immunity. Low levels of mannose-binding lectin, an immune system...

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Disorders of diminished motivation
Rabu, 2026-05-06 23:31:11

directing or allocating attention and motivation rather than a global deficiency in these processes. People with ADHD are often highly motivated towards...

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Hypohidrosis
Selasa, 2026-03-10 09:36:27

known as adiaphoresis, ischidrosis, oligidria, oligohidrosis and sweating deficiency. Causes include: Medications Anticholinergic agents Opioids Botulinum...

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Lysosomal acid lipase deficiency
Jumat, 2025-08-15 18:34:53

Lysosomal acid lipase deficiency (LAL deficiency or LAL-D) or Wolman disease, is an autosomal recessive inborn error of metabolism that results in the...

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Purine nucleoside phosphorylase deficiency
Jumat, 2025-08-15 15:14:26

Purine nucleoside phosphorylase deficiency is a rare autosomal recessive metabolic disorder which results in immunodeficiency. In addition to the symptoms...

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Lupus
Minggu, 2026-05-31 22:27:58

develop the disease. Female sex hormones, sunlight, smoking, vitamin D deficiency, and certain infections are also believed to increase a person's risk...

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Hunter syndrome
Senin, 2026-04-06 12:44:10

mucopolysaccharides) build up in body tissues. Hunter syndrome is caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S). The lack of this...

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Adenosine deaminase 2 deficiency
Senin, 2026-01-26 13:01:19

Deficiency of Adenosine deaminase 2 (DADA2) is a monogenic disease associated with systemic inflammation and vasculopathy that affects a wide variety of...

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Very long-chain acyl-coenzyme A dehydrogenase deficiency
Sabtu, 2026-05-23 08:15:43

Very long-chain acyl-coenzyme A dehydrogenase deficiency is a fatty-acid metabolism disorder which prevents the body from converting certain fats to energy...

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Carnitine-acylcarnitine translocase deficiency
Rabu, 2025-11-19 02:23:12

Carnitine-acylcarnitine translocase deficiency is a rare, autosomal recessive metabolic disorder that prevents the body from converting long-chain fatty...

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Koilonychia
Rabu, 2026-05-13 23:27:00

nail disease that can be a sign of hypochromic anemia, especially iron-deficiency anemia. It refers to abnormally thin nails (usually of the hand) which...

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17β-Hydroxysteroid dehydrogenase III deficiency
Rabu, 2025-12-24 11:24:20

17β-Hydroxysteroid dehydrogenase III deficiency is a rare autosomal recessive disorder of sexual development condition that is a cause of 46,XY disorder...

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Glutathione synthetase deficiency
Minggu, 2025-11-30 17:19:10

Glutathione synthetase deficiency (GSD) is a rare autosomal recessive metabolic disorder that prevents the production of glutathione. Glutathione helps...

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Cytochrome P450 oxidoreductase deficiency
Senin, 2025-11-17 07:24:06

Cytochrome P450 oxidoreductase deficiency (PORD) is a rare disease and inborn error of metabolism caused by deficiency of cytochrome P450 oxidoreductase...

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Galactosialidosis
Jumat, 2026-01-30 04:23:05

Galactosialidosis, also known as neuraminidase deficiency with beta-galactosidase deficiency, is a genetic lysosomal storage disease. It is caused by...

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NGLY1 deficiency
Rabu, 2025-11-12 05:15:07

NGLY1 deficiency is a very rare genetic disorder caused by biallelic pathogenic variants in NGLY1. It is an autosomal recessive disorder. Errors in deglycosylation...

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P14 deficiency
Jumat, 2025-05-23 21:34:30

P14 deficiency is a rare autosomal recessive disease characterized as a primary immunodeficiency syndrome. This disease was first identified within a white...

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Platelet storage pool deficiency
Sabtu, 2026-05-30 05:37:30

Platelet storage pool deficiency is a family of clotting disorders characterized by deficient granules in platelets. Individuals with these disorders have...

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Hypoaldosteronism
Sabtu, 2024-09-07 05:02:05

aldosterone deficiency Primary adrenal insufficiency Congenital adrenal hyperplasia (21 but not 11β and 17) Aldosterone synthase deficiency Secondary aldosterone...

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Severe combined immunodeficiency
Minggu, 2026-05-03 16:58:37

this enzyme causes elevated dGTP levels resulting in T-cell toxicity and deficiency. Inability of granulocyte precursors to form granules secondary to mitochondrial...

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Citrullinemia type I
Kamis, 2025-08-14 17:06:34

(CTLN1), also known as arginosuccinate synthetase deficiency, is a rare disease caused by a deficiency in argininosuccinate synthetase, an enzyme involved...

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Manganese deficiency
Minggu, 2019-12-29 15:32:05

Manganese deficiency may refer to: Manganese deficiency (medicine) Manganese deficiency (plant) This disambiguation page lists articles associated with...

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Terminal complement pathway deficiency
Rabu, 2025-11-19 02:34:21

complement pathway deficiency is a genetic condition affecting the complement membrane attack complex (MAC). It involves deficiencies of C5, C6, C7, and...

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Zinc deficiency (plant disorder)
Kamis, 2025-08-21 01:06:48

Zinc deficiency occurs when plant growth is limited because the plant cannot take up sufficient quantities of this essential micronutrient from its growing...

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Prekallikrein
Rabu, 2026-03-25 16:36:52

Hereditary deficiencies in PK are very rare. They can cause a prolonged APTT, which can be corrected by incubation of the patient's plasma. Deficiencies in PK...

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Loan deficiency payments
Jumat, 2023-01-06 09:31:37

In United States agriculture policy, loan deficiency payments (LDP) are a farm income support program first authorized by the Food Security Act of 1985...

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Golden mean (philosophy)
Jumat, 2026-06-05 08:12:10

desirable middle between two extremes, one of excess and the other of deficiency. It appeared in Greek at least as early as the Delphic maxim "nothing...

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Congenital hypothyroidism
Senin, 2026-04-06 21:20:27

Congenital hypothyroidism (CH) is a thyroid hormone deficiency present at birth. If untreated soon after birth, severe congenital hypothyroidism can lead...

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Feeble-minded
Rabu, 2025-12-03 20:02:24

illnesses, deficiencies of the mind, and disabilities. At the time, mental deficiency encompassed all degrees of educational and social deficiency. Within...

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Infant respiratory distress syndrome
Rabu, 2026-03-04 11:56:59

Infant respiratory distress syndrome (IRDS), also known as surfactant deficiency disorder (SDD), and previously called hyaline membrane disease (HMD),...

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List of primary immunodeficiencies
Rabu, 2026-03-11 16:32:19

CARD11 deficiency MST1 deficiency TCRα deficiency LCK deficiency IL-21 deficiency IL-21R deficiency UNC119 deficiency NIK deficiency OX40 deficiency IKBKB...

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Microcytic anemia
Selasa, 2025-12-02 07:52:21

include: Childhood Iron deficiency anemia (50% of all anemias in humans are due to iron-deficiency) Thalassemia Adulthood Iron deficiency anemia Thalassemia...

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Propionic acidemia
Jumat, 2026-01-09 18:02:21

also known as propionic aciduria or propionyl-CoA carboxylase deficiency (PCC deficiency), is a rare autosomal recessive metabolic disorder, classified...

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Citrullinemia
Rabu, 2026-02-11 06:11:49

Deficiency; ASS Deficiency; Argininosuccinic Acid Synthetase Deficiency; CTLN1; Citrullinemia, Classic GeneReviews/NIH/UW entry on Citrin deficiency and...

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Folinic acid
Senin, 2026-06-01 01:15:02

colorectal cancer and pancreatic cancer, and may be used to treat folate deficiency, anemia, and methanol poisoning. It is taken by mouth, injection into...

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Carnitine palmitoyltransferase I deficiency
Minggu, 2025-12-28 13:22:45

Carnitine palmitoyltransferase I deficiency is a rare metabolic disorder that prevents the body from converting certain fats called long-chain fatty acids(LCFA)...

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HRDetect
Kamis, 2025-12-11 05:56:53

(Homologous Recombination Deficiency Detect) is a whole-genome sequencing (WGS)-based classifier designed to predict BRCA1 and BRCA2 deficiency based on six mutational...

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Wernicke–Korsakoff syndrome
Minggu, 2026-05-24 00:54:50

and impaired memory. The cause of the disorder is thiamine (vitamin B1) deficiency. This can occur due to eating disorders, malnutrition, and alcohol abuse...

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Factor XIII deficiency
Selasa, 2025-06-10 04:50:42

Factor XIII deficiency occurs exceedingly rarely, causing a severe bleeding tendency. The incidence is one in a million to one in five million people,...

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Lesch–Nyhan syndrome
Senin, 2026-05-11 20:35:51

inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This deficiency occurs due to mutations in...

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Hereditary angioedema
Senin, 2026-06-01 21:03:47

genetic alterations can precipitate the most common form of HAE, a "genetic deficiency in C1 inhibitor". However, forms of HAE have been identified that are...

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Hypokalemia
Senin, 2026-01-26 11:16:23

a deficiency of the 11-beta-hydroxysteroid dehydrogenase type 2 enzyme, which allows cortisols to stimulate aldosterone receptors. This deficiency—known...

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Lysine
Jumat, 2026-06-05 05:40:57

impaired fatty acid metabolism, anaemia, and systemic protein-energy deficiency. In contrast, an overabundance of lysine, caused by ineffective catabolism...

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Endocrine disease
Kamis, 2025-12-04 13:52:05

groups: Endocrine gland hypofunction/hyposecretion (leading to hormone deficiency) Endocrine gland hyperfunction/hypersecretion (leading to hormone excess)...

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Isolated growth hormone deficiency
Selasa, 2024-03-12 10:51:23

Isolated growth hormone deficiency (IGHD) is a rare congenital disorder characterized by growth hormone deficiency and postnatal growth failure. It is...

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Androgen insensitivity syndrome
Jumat, 2026-04-03 20:46:15

dehydrogenase 2 deficiency 17α-hydroxylase deficiency 17,20 lyase deficiency 17β-hydroxysteroid dehydrogenase deficiency 5α-reductase deficiency Androgen excess...

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Prolidase deficiency
Rabu, 2025-07-16 05:12:07

Prolidase deficiency (PD) is an extremely uncommon autosomal recessive disorder associated with collagen metabolism that affects connective tissues and...

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Tyrosine hydroxylase deficiency
Senin, 2025-06-02 09:55:00

Tyrosine hydroxylase deficiency (THD) is a disorder caused by disfunction of tyrosine hydroxylase, an enzyme involved in the biosynthesis of dopamine....

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Short stature
Jumat, 2026-03-27 16:28:40

conditions, such as chronic (prolonged) growth hormone or thyroid hormone deficiency, malnutrition, disease of a major organ system, mistreatment, treatment...

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Cortisone reductase deficiency
Rabu, 2025-11-12 05:10:50

Cortisone reductase deficiency is caused by dysregulation of the 11β-hydroxysteroid dehydrogenase type 1 enzyme (11β-HSD1), otherwise known as cortisone...

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Manganese deficiency (medicine)
Kamis, 2025-05-08 01:04:12

Manganese deficiency in humans results in several medical problems. Manganese is a vital element of nutrition in very small quantities (adult male daily...

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Galactosemia
Selasa, 2026-05-05 06:20:42

Galactosemia follows an autosomal recessive mode of inheritance that confers a deficiency in an enzyme responsible for adequate galactose degradation. Friedrich...

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Short-chain acyl-coenzyme A dehydrogenase deficiency
Minggu, 2025-12-28 12:47:14

Short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) is an autosomal recessive fatty acid oxidation disorder which affects enzymes required to...

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Coagulation
Jumat, 2026-05-22 20:20:40

hemophilia A (factor VIII deficiency), hemophilia B (factor IX deficiency or "Christmas disease") and hemophilia C (factor XI deficiency, mild bleeding tendency)...

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Ibutamoren
Kamis, 2025-12-25 22:59:52

these hormones, such as in children or elderly adults with growth hormone deficiency, and human studies have shown it to increase both muscle mass and bone...

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Mevalonate kinase deficiency
Minggu, 2026-03-15 04:03:14

Mevalonate kinase deficiency (MKD) is an autosomal recessive metabolic disorder that disrupts the biosynthesis of cholesterol and isoprenoids. It is a...

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Methylenetetrahydrofolate dehydrogenase 1 deficiency
Minggu, 2025-12-14 04:26:57

Methylenetetrahydrofolate dehydrogenase 1 deficiency (MTHFD1 deficiency) is a disease resulting from mutations of the MTHFD1 gene. Patients with this...

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Multiple carboxylase deficiency
Selasa, 2025-03-04 22:57:42

Multiple carboxylase deficiency is a form of metabolic disorder involving failures of carboxylation enzymes. The deficiency can be in biotinidase or holocarboxylase...

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Haemophilia C
Jumat, 2026-05-29 07:44:12

antecedent (PTA) deficiency or Rosenthal syndrome) is a mild form of haemophilia affecting both sexes, due to factor XI deficiency. It predominantly...

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Glutaminase deficiency
Minggu, 2023-05-07 20:18:15

Glutaminase deficiency is a rare genetic disorder that presents in childhood. It is associated with epilepsy and usually results in an early demise. This...

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Farber disease
Senin, 2026-03-09 13:41:45

Farber disease (also known as Farber's lipogranulomatosis, acid ceramidase deficiency, "Lipogranulomatosis", and ASAH1-related disorders) is an extremely rare...

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CD25 deficiency
Senin, 2024-03-18 16:36:40

CD25 deficiency or interleukin 2 receptor alpha deficiency is an immunodeficiency disorder associated with mutations in the interleukin 2 receptor alpha...

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Lactate dehydrogenase
Minggu, 2026-03-08 14:52:02

dehydrogenase deficiency. Depending on which gene carries the mutation, one of two types will occur: either lactate dehydrogenase-A deficiency (also known...

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Laron syndrome
Rabu, 2026-04-15 08:58:47

also known as growth hormone insensitivity or growth hormone receptor deficiency (GHRD), is an autosomal recessive disorder characterized by a lack of...

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Late-onset hypogonadism
Sabtu, 2026-06-06 06:34:22

Late-onset hypogonadism (LOH) or testosterone deficiency syndrome (TDS) is a condition in older men characterized by measurably low testosterone levels...

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PGM3 deficiency
Rabu, 2025-07-16 05:09:06

PGM3 deficiency is a rare genetic disorder of the immune system associated with diminished phosphoglucomutase 3 function. PGM3 is an enzyme which in humans...

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Hydroxocobalamin
Senin, 2026-02-02 23:59:45

a dietary supplement. As a supplement it is used to treat vitamin B12 deficiency including pernicious anemia. Other uses include treatment for cyanide...

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Nutritional deficiency eczema
Senin, 2025-11-17 08:43:03

Nutritional deficiency eczema is a pattern of eczema with localized, thickened, scaling patches that have some characteristics of nummular eczema, seborrheic...

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Chromium deficiency
Kamis, 2025-07-17 23:05:00

Chromium deficiency is described as the consequence of an insufficient dietary intake of the mineral chromium. Chromium was first proposed as an essential...

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Golden rice
Jumat, 2026-05-08 16:31:21

that diet supplement programs have already reduced rates of vitamin A deficiency in the Philippines. To more widely impact diets of children deficient...

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Complement 3 deficiency
Rabu, 2024-09-25 06:36:22

Complement 3 deficiency is a genetic condition affecting complement component 3 (C3). People can suffer from either primary or secondary C3 deficiency. Primary...

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Cytochrome b5 deficiency
Senin, 2025-11-17 07:24:07

Cytochrome b5 deficiency is a rare condition and form of isolated 17,20-lyase deficiency caused by deficiency in cytochrome b5, a small hemoprotein that...

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Creatine
Minggu, 2026-06-07 13:44:29

cause L-arginine:glycine amidinotransferase deficiency and guanidinoacetate methyltransferase deficiency. Both biosynthetic defects are inherited in an...

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Angular cheilitis
Jumat, 2026-03-13 23:37:34

cheilitis with nutritional deficiencies, especially of the B (B2-riboflavin) vitamin and iron (which causes iron deficiency anemia), which in turn may...

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Orotic aciduria
Jumat, 2025-08-15 15:13:17

caused by an enzyme deficiency, resulting in a decreased ability to synthesize pyrimidines. It was the first described enzyme deficiency of the de novo pyrimidine...

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D-glycerate dehydrogenase deficiency
Kamis, 2025-07-17 06:41:27

D-glycerate dehydrogenase deficiency (or 3-phosphoglycerate dehydrogenase deficiency, PHGDH deficiency, PHGDHD) is a rare autosomal metabolic disease where...

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Allan–Herndon–Dudley syndrome
Rabu, 2026-02-25 08:31:05

(SPINA-GD). T3-thyrotoxicosis contributes to major comorbidities in MCT8 deficiency, including cardiovascular conditions and osteopenia. It is assumed to...

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Leukocyte adhesion deficiency-1
Sabtu, 2026-03-28 15:45:47

Leukocyte adhesion deficiency-1 (LAD1) is a rare and often fatal genetic disorder in humans. The main sign of the disease is life-threatening, recurrent...

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Pantothenic acid
Senin, 2026-05-25 05:16:38

pantothenic acid, at least in small amounts, is in almost all foods. Deficiency of pantothenic acid is very rare in humans. In dietary supplements and...

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Formiminoglutamic acid
Rabu, 2026-01-14 02:37:56

levels of folate. The FIGLU test is used to identify vitamin B12 deficiency, folate deficiency, and liver failure or liver disease. It is elevated with folate...

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Galactose-1-phosphate uridylyltransferase deficiency
Jumat, 2025-08-15 13:17:57

uridylyltransferase deficiency (classic galactosemia) is the most common type of galactosemia, an inborn error of galactose metabolism, caused by a deficiency of the...

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Essential fatty acid
Senin, 2025-12-29 04:01:08

conversion amount is small, requiring intake from food or supplements. Deficiency in omega−3 fatty acids is very common. The average American has a dietary...

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Hypoestrogenism
Senin, 2026-05-25 16:53:18

Hypoestrogenism, or estrogen deficiency, refers to a lower than normal level of estrogen. It is an umbrella term used to describe estrogen deficiency in various conditions...

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Alcoholic polyneuropathy
Senin, 2025-04-14 08:32:20

polyneuropathy is caused primarily by chronic alcoholism; however, vitamin deficiencies are also known to contribute to its development. This disease typically...

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Sulfite oxidase
Selasa, 2026-02-24 06:12:47

functional sulfite oxidase causes a disease known as sulfite oxidase deficiency. This rare but fatal disease causes neurological disorders, intellectual...

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Acute intermittent porphyria
Sabtu, 2025-11-15 19:51:46

metabolic disorder affecting the production of heme resulting from a deficiency of the enzyme porphobilinogen deaminase. It is the most common of the...

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Addison's disease
Kamis, 2026-05-14 03:59:56

This can be due to damage or destruction of the adrenal cortex. These deficiencies include glucocorticoid and mineralocorticoid hormones as well. These...

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Aminolevulinic acid dehydratase deficiency porphyria
Rabu, 2025-10-01 02:15:30

Aminolevulinic acid dehydratase deficiency porphyria (also known as Doss porphyria, plumboporphyria, or ADP) is an extremely rare autosomal recessive metabolic...

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Intrinsic factor
Minggu, 2026-05-31 20:16:58

factor deficiency, malabsorption of vitamin B12, and subsequent megaloblastic anemia. Atrophic gastritis can also cause intrinsic factor deficiency and anemia...

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Congenital hemolytic anemia
Sabtu, 2025-09-20 05:12:25

spherocytosis is a common hemolytic disorder distinguished by a defect or deficiency within one or more of the proteins that make up the membrane of the red...

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Combined immunodeficiencies
Minggu, 2025-05-25 22:52:17

Combined immune deficiencies (CIDs) are a diverse group of inherited immune disorders characterized by impaired T lymphocyte development, function, or...

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Complement component 2
Senin, 2026-02-16 00:21:53

which are a class of enzymes that cleave peptide bonds in other proteins. Deficiency of C2 has been associated with certain autoimmune diseases. The Complement...

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Properdin deficiency
Minggu, 2024-08-18 07:55:00

Properdin deficiency is a rare X-linked disease in which properdin, an important complement factor responsible for the stabilization of the alternative...

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Electron-transferring-flavoprotein dehydrogenase
Sabtu, 2026-02-14 21:31:36

encoded by the ETFDH gene. Deficiency in ETF dehydrogenase causes the human genetic disease multiple acyl-CoA dehydrogenase deficiency. ETF-QO links the oxidation...

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Alpha-2-plasmin inhibitor deficiency
Sabtu, 2025-11-22 08:35:10

Alpha-2-plasmin inhibitor deficiency, also known as alpha-2-antiplasmin deficiency or congenital alpha-2-antiplasmin deficiency, is a rare autosomal recessive...

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IgG deficiency
Minggu, 2023-12-03 06:43:42

IgG deficiency is a form of dysgammaglobulinemia where the proportional levels of the IgG isotype are reduced relative to other immunoglobulin isotypes...

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Hardgainer
Sabtu, 2025-07-19 13:00:00

maltase deficiency Carnitine deficiency Carnitine palmitoyltransferase II deficiency Debrancher Enzyme Deficiency Lactate dehydrogenase deficiency Mitochondrial...

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Triosephosphate isomerase deficiency
Rabu, 2025-11-19 02:34:36

Triosephosphate isomerase deficiency is a rare autosomal recessive metabolic disorder which was initially described in 1965. It is a unique glycolytic...

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Fibular hemimelia
Senin, 2025-05-05 03:18:00

Fibular hemimelia or longitudinal fibular deficiency is "the congenital absence of the fibula and it is the most common congenital absence of long bone...

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Molybdenum deficiency (plant disorder)
Kamis, 2023-08-24 23:40:39

Molybdenum (Mo) deficiency occurs when plant growth is limited because the plant cannot take up sufficient quantities of this essential micronutrient from...

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Lipoid congenital adrenal hyperplasia
Jumat, 2025-08-15 09:30:36

divided into:[citation needed] mineralocorticoid deficiency, glucocorticoid deficiency, sex steroid deficiency, and damage to gonads caused by lipid accumulation...

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Porphyria cutanea tarda
Senin, 2026-05-04 12:11:56

porphyrias, PCT does not cause severe illness. The disorder results from a deficiency of uroporphyrinogen III decarboxylase, used in the production of heme...

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Red blood cell distribution width
Rabu, 2025-08-20 00:52:01

differentiate an anemia of mixed causes from an anemia of a single cause. Deficiencies of Vitamin B12 or folate produce a macrocytic anemia (large cell anemia)...

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Pharmacosmos
Kamis, 2024-04-04 21:38:51

Pharmacosmos is a pharmaceutical company specialized in treatment of iron deficiency anemia. Pharmacosmos was founded in Denmark in 1965 by Henry Marinus Christensen...

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Thyroid
Jumat, 2026-05-29 05:12:24

hormones: the most common cause is iodine deficiency. In iodine-deficient regions, hypothyroidism (due to iodine deficiency) is the leading cause of preventable...

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Vitamin B3
Selasa, 2026-05-12 00:01:02

dietary supplement is used to treat pellagra, a disease caused by niacin deficiency. Signs and symptoms of pellagra include skin and mouth lesions, anemia...

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HADHA
Minggu, 2026-05-03 16:29:19

associated with trifunctional protein deficiency or long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. HADHA is an 82.9 kDa protein composed...

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Glutaric acidemia type 2
Sabtu, 2025-09-13 00:42:43

cells, as well as some muscle biopsies showing COX-negative fibres and deficiency of coenzyme Q10. Mutations in the ETFA, ETFB, and ETFDH genes cause glutaric...

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ZAP70 deficiency
Selasa, 2025-09-30 17:11:58

ZAP70 deficiency, or ZAP70 deficient SCID, is a rare autosomal recessive form of severe combined immunodeficiency (SCID) resulting in a lack of CD8+ T...

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Aldosterone synthase
Selasa, 2025-07-22 22:43:15

oxidase deficiency type I and II. The corticosterone methyl oxidase deficiencies both share this effect however type I causes an overall deficiency of...

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Iron supplement
Senin, 2026-04-06 09:52:18

number of iron formulations used to treat and prevent iron deficiency including iron-deficiency anemia. For prevention they are only recommended in those...

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2025 Romanian anti-judicial corruption protests
Kamis, 2026-05-14 22:38:40

documentary released by Recorder that drew attention to supposed corruption and deficiency at the top of the justice system of Romania. In December 2025, after the...

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Glycogen storage disease type 0
Rabu, 2026-04-22 01:29:30

is a disease characterized by a deficiency in the glycogen synthase enzyme (GSY). Although glycogen synthase deficiency does not result in storage of extra...

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Medium-chain acyl-coenzyme A dehydrogenase deficiency
Kamis, 2026-03-19 05:58:08

Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency or MCADD) is a disorder of fatty acid oxidation that impairs the body's ability to break...

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Intravenous iron infusion
Rabu, 2026-04-22 21:50:28

into the bloodstream through a vein, in patients suffering iron deficiency, iron-deficiency anaemia and chronic kidney disease. IV iron infusions are recommended...

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Nicomachean Ethics
Jumat, 2026-04-10 20:36:47

found at a mean (mesótēs) between deficiency and excess. For example, someone who flees is a coward (with a deficiency of bravery, or an excessive response...

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Sucrose intolerance
Jumat, 2026-05-08 04:25:28

Sucrose intolerance or genetic sucrase-isomaltase deficiency (GSID) is the condition in which sucrase-isomaltase, an enzyme needed for proper metabolism...

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Beta oxidation
Senin, 2026-03-16 05:57:04

dehydrogenase (LCHAD) deficiency is a condition that affects mitochondrial function due to enzyme impairments. LCHAD deficiency is specifically caused...

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Sermorelin
Rabu, 2026-01-21 09:29:28

growth hormone (GH) secretion for the purpose of diagnosing growth hormone deficiency. It is a 29-amino acid polypeptide representing the 1–29 fragment from...

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Glossitis
Minggu, 2026-03-08 05:07:51

vitamin B2 deficiency is described as magenta. Vitamin B3 deficiency (pellagra) can cause glossitis. Vitamin B6 deficiency (pyridoxine deficiency) can cause...

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Haemophilia B
Jumat, 2026-05-29 07:42:52

gene for factor IX, and resulting in a deficiency of factor IX. It is less common than factor VIII deficiency (haemophilia A). Haemophilia B was first...

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List of causes of hypoglycemia
Jumat, 2026-06-05 03:37:32

dehydrogenase deficiency 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency 3-Methylcrotonyl-CoA carboxylase deficiency ACAD9 deficiency Acetohexamide Ackee...

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Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Selasa, 2026-05-12 07:36:53

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) is a genetic disorder characterized by impaired production of cortisol in the adrenal...

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Iron
Rabu, 2026-06-03 05:52:51

values is provided at Reference Daily Intake. Iron deficiency is the most common nutritional deficiency in the world. When loss of iron is not adequately...

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Thrombophilia
Minggu, 2026-01-25 13:44:12

form of thrombophilia to be identified by medical science, antithrombin deficiency, was identified in 1965, while the most common abnormalities (including...

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Niemann–Pick disease
Jumat, 2025-12-05 09:47:32

Niemann–Pick disease (NP), also known as acid sphingomyelinase deficiency (ASMD), is a group of rare genetic diseases of varying severity. These are inherited...

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Growth hormone
Senin, 2026-05-18 17:51:22

prescription drug to treat children's growth disorders and adult growth hormone deficiency. In the United States, it is only available legally from pharmacies by...

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Cernunnos deficiency
Sabtu, 2025-07-19 12:23:06

Cernunnos deficiency is a form of combined immunodeficiency characterized by microcephaly, due to mutations in the NHEJ1 gene, it is inherited via autosomal...

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Osteomalacia
Rabu, 2026-06-03 18:44:53

levels of circulating mineral ions (for example, caused by vitamin D deficiency or renal phosphate wasting) that result in decreased bone and tooth mineralization...

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Isolated primary immunoglobulin M deficiency
Selasa, 2025-04-29 00:13:23

Isolated primary immunoglobulin M deficiency is a poorly defined dysgammaglobulinemia. It is characterized by decreased levels of IgM. The levels of other...

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Nutritional neuroscience
Sabtu, 2026-05-16 19:11:29

subsequently affect neurotransmission, synaptic plasticity, and cell survival. Deficiency or excess of essential minerals (e.g. iron, zinc, copper, and magnesium)...

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Radial dysplasia
Minggu, 2026-05-24 17:09:17

Radial dysplasia, also known as radial club hand or radial longitudinal deficiency, is a congenital difference occurring in a longitudinal direction resulting...

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Brunner syndrome
Rabu, 2025-09-10 04:03:05

following signs and symptoms occur in people with monoamine oxidase A deficiency, which causes Brunner syndrome: lack of impulse control aggressive or...

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Gene therapy
Kamis, 2026-05-28 08:41:45

tiparvovec, a treatment for a rare inherited disorder, lipoprotein lipase deficiency, became the first treatment to be approved for clinical use in either...

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Blurred vision
Rabu, 2025-07-16 23:41:41

pseudomyopia, diabetes, cataract, pernicious anemia, vitamin B12 deficiency, thiamine deficiency, glaucoma, retinopathy, hypervitaminosis A, migraine, sjögren's...

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Common variable immunodeficiency
Jumat, 2026-03-27 14:39:52

Medscape. Retrieved February 17, 2016. "Common Variable Immune Deficiency". Immune Deficiency Foundation. Retrieved February 16, 2016. Common Variable Immunodeficiency :...

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Rank (linear algebra)
Kamis, 2026-04-02 19:40:23

is said to be rank-deficient if it does not have full rank. The rank deficiency of a matrix is the difference between the lesser of the number of rows...

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Sleep debt
Selasa, 2025-12-02 03:28:48

PMID 25012962. S2CID 36653608. "Sleep Deprivation and Deficiency - What Are Sleep Deprivation and Deficiency? | NHLBI, NIH". 24 March 2022. Motomura Y, Kitamura...

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Schindler disease
Kamis, 2026-06-04 22:26:10

alpha-N-acetylgalactosaminidase deficiency, is a rare disease found in humans. This lysosomal storage disorder is caused by a deficiency in the enzyme alpha-NAGA...

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Vitamin E
Kamis, 2026-05-21 04:39:15

vitamin E deficiency is rare, usually caused by an underlying problem with digesting dietary fat rather than from a diet low in vitamin E. Deficiency can cause...

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Methylmalonyl-CoA mutase deficiency
Minggu, 2025-11-23 05:48:31

Methylmalonyl-CoA mutase deficiency is caused by genetic defect in the MUT gene responsible for encoding the enzyme. Deficiency in this enzyme accounts...

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Iodine Global Network
Kamis, 2025-01-30 10:27:56

(abbreviated IGN; formerly the International Council for the Control of Iodine Deficiency Disorders Global Network or ICCIDD Global Network) describes itself as...

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Folliculitis
Minggu, 2026-05-31 14:33:20

spp. Folliculitis can affect people of all ages.[citation needed] Iron-deficiency anemia is sometimes associated with chronic cases.[citation needed] Staphylococcus...

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Lysosomal storage disease
Rabu, 2026-06-03 14:25:33

disorders are caused by lysosomal dysfunction usually as a consequence of deficiency of a single enzyme required for the metabolism of lipids, glycoproteins...

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Diabetes insipidus
Rabu, 2026-05-20 02:22:42

different set of causes. Central DI (CDI), now known as arginine vasopressin deficiency (AVP-D), is due to a lack of vasopressin (antidiuretic hormone) production...

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Antideficiency Act
Selasa, 2026-05-26 21:49:42

War, to end the executive branch's long history of creating coercive deficiencies. Many agencies, particularly the military, would intentionally run out...

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3-hydroxyacyl-coenzyme A dehydrogenase deficiency
Jumat, 2025-11-28 18:04:29

3-hydroxyacyl-coenzyme A dehydrogenase deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during...

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Zinc
Jumat, 2026-06-05 21:56:22

humans. Deficiency of zinc intake affects about two billion people in the developing world and is associated with many diseases. In children, deficiency causes...

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Endemic goitre
Senin, 2025-04-07 11:57:17

Endemic goitre is a type of goitre that is associated with dietary iodine deficiency. Some inland areas, where soil and water lacks iodine compounds and consumption...

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Ferritin
Senin, 2026-05-25 02:30:30

soluble and non-toxic form. In humans, it acts as a buffer against iron deficiency and iron overload. Ferritin is found in most tissues as a cytosolic protein...

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Bernard–Soulier syndrome
Sabtu, 2025-11-22 08:36:18

(BSS) is a rare autosomal recessive bleeding disorder that is caused by a deficiency of the glycoprotein Ib-IX-V complex (GPIb-IX-V), the receptor for von...

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Food fortification
Selasa, 2026-05-12 23:56:35

practices since the 1920s to help prevent nutrient deficiencies in populations. Common nutrient deficiencies in a region often result from local soil conditions...

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Cyanocobalamin
Kamis, 2026-05-28 08:20:22

used to treat and prevent vitamin B 12 deficiency except in the presence of cyanide toxicity. The deficiency may occur in pernicious anemia, following...

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Luteinizing hormone
Kamis, 2026-03-12 10:00:48

Luteinizing hormone (LH, also known as luteinising hormone, lutropin and sometimes lutrophin) is a hormone produced by gonadotropic cells in the anterior...

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List of genetic disorders
Kamis, 2026-04-23 04:12:50

E, et al. (September 2018). "5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy...

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Gaucher's disease
Selasa, 2026-04-14 02:28:34

and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as glucosylceramidase), which...

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Prune belly syndrome
Selasa, 2026-02-03 23:34:58

proper place in the scrotum. Eagle JF, Barrett GS (1950). "Congenital deficiency of abdominal musculature with associated genitourinary abnormalities:...

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Binding energy
Selasa, 2025-04-01 20:09:06

In physics and chemistry, binding energy is the smallest amount of energy required to remove a particle from a system of particles or to disassemble a...

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Purpura fulminans
Sabtu, 2026-02-28 06:18:37

of the protein C gene (PROC) have been identified. Acquired protein C deficiency is caused by either depletion of available protein C in plasma or decreased...

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Megaloblastic anemia
Sabtu, 2025-11-08 04:22:51

most often due to hypovitaminosis, specifically vitamin B12 deficiency or folate deficiency. Loss of micronutrients may also be a cause. Megaloblastic...

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Janus kinase 3 deficiency
Senin, 2025-11-17 07:56:03

JAK3 (Janus kinase 3) deficiency is a dysfunction in cytokine receptor signalling and their production of cytokines. JAK3 is a tyrosine protein kinase...

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Combined saposin deficiency
Selasa, 2026-05-05 05:53:02

belongs to Lysosomal Storage Diseases(LSDs). Because of complete saposin deficiency, it can cause clinical features of 4 diseases(Gaucher's Disease, Metachromatic...

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Rhizomelic chondrodysplasia punctata
Kamis, 2025-07-17 01:29:48

shortening of the femur, resulting in short legs Post-natal growth problems (deficiency) Cataracts Intellectual disability Possible seizures Possible infections...

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Acyl-CoA oxidase deficiency
Rabu, 2025-07-16 04:20:54

Acyl-CoA oxidase deficiency is a rare genetic disorder that leads to significant damage and deterioration of nervous system functions (neurodegeneration)...

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Nutrient
Jumat, 2026-05-08 15:18:54

nutrient is a deficiency. Deficiencies can be due to several causes, including an inadequacy in nutrient intake, called a dietary deficiency, or any of several...

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Mitochondrial myopathy
Senin, 2026-05-18 04:58:52

electrolyte imbalance, myasthenia gravis, thyroid abnormalities, vitamin D deficiency, immune-mediated necrotizing myopathy, diabetes-related pseudohypoxia...

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Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
Rabu, 2025-12-24 13:59:08

Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is a form of congenital adrenal hyperplasia (CAH) which produces a higher than normal...

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American Association on Intellectual and Developmental Disabilities
Jumat, 2026-05-01 21:37:10

for the Study of the Feebleminded 1933: American Association on Mental Deficiency 1987: American Association on Mental Retardation 2007: American Association...

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Congenital disorder of glycosylation type IIc
Senin, 2025-02-24 21:04:41

glycosylation type IIc or Leukocyte adhesion deficiency-2 (LAD2) is a type of leukocyte adhesion deficiency attributable to the absence of neutrophil sialyl-LewisX...

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Familial benign copper deficiency
Selasa, 2025-07-15 11:09:25

Familial benign copper deficiency, also known as Familial benign hypocupremia is a rare genetic disorder which is characterized by hypocupremia that causes...

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Panniculitis
Kamis, 2025-11-20 03:52:55

cutaneous involvement (seen in up to 20 percent); Alpha 1-antitrypsin deficiency Crohn's disease This is not a complete list of possible causes. Lipoatrophy...

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Factor XIII
Rabu, 2025-03-26 03:14:41

activated by thrombin to factor XIIIa which crosslinks fibrin in coagulation. Deficiency of XIII worsens clot stability and increases bleeding tendency. Human...

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Riboflavin-responsive exercise intolerance
Jumat, 2024-11-01 20:45:05

Riboflavin-responsive exercise intolerance (SLC25A32 deficiency) is a rare disorder caused by mutations of the SLC25A32 gene that encodes the mitochondrial...

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CSL Vifor
Senin, 2025-08-04 13:24:40

global specialty pharmaceuticals company in the treatment areas of iron deficiency, dialysis, nephrology & rare disease. It is headquartered in Switzerland...

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Somatorelin
Sabtu, 2023-05-13 19:23:23

hormone deficiency. It is a recombinant version of growth hormone-releasing hormone (GHRH). Somatorelin has been used to study hormone deficiency (particularly...

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Presentation of a group
Senin, 2026-01-19 06:28:07

t−1 φt(s)−1 | s in S, t in T}⟩. The deficiency of a finite presentation ⟨S | R⟩ is just |S| − |R| and the deficiency of a finitely presented group G, denoted...

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Malonic aciduria
Senin, 2025-12-29 16:03:29

Malonic aciduria or malonyl-CoA decarboxylase deficiency (MCD) is an autosomal-recessive metabolic disorder caused by a genetic mutation that disrupts...

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Calcifediol
Senin, 2025-09-29 03:06:32

performed to determine a person's vitamin D status, to show vitamin D deficiency or sufficiency. Calcifediol is available as an oral medication in some...

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Micropenis
Senin, 2026-04-20 10:24:47

20-lyase deficiency, 5α-reductase deficiency), androgen insensitivity syndromes, inadequate pituitary stimulation (gonadotropin deficiency), and other...

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Hypoprothrombinemia
Sabtu, 2023-09-02 02:01:01

Hypoprothrombinemia is a rare blood disorder in which a deficiency in immunoreactive prothrombin (Factor II), produced in the liver, results in an impaired...

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Acid lipase disease
Jumat, 2025-11-21 01:38:14

Acid lipase disease or deficiency is a name used to describe two related disorders of fatty acid metabolism. Acid lipase disease occurs when the enzyme...

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Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
Minggu, 2025-12-28 12:38:43

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency is a rare autosomal recessive fatty acid oxidation disorder that prevents the body from converting...

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List of OMIM disorder codes
Kamis, 2026-05-28 04:28:50

20-lyase deficiency; 202110; CYP17A1 17-alpha-hydroxylase/17,20-lyase deficiency; 202110; CYP17A1 17-beta-hydroxysteroid dehydrogenase X deficiency; 300438;...

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Adenosine monophosphate deaminase deficiency type 1
Minggu, 2026-01-11 23:05:10

Adenosine monophosphate deaminase deficiency type 1 or AMPD1, is a human metabolic disorder in which the body consistently lacks the enzyme AMP deaminase...

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Hereditary fructose intolerance
Senin, 2026-04-06 15:06:31

intolerance (HFI) is an inborn error of fructose metabolism caused by a deficiency of the enzyme aldolase B. Individuals affected with HFI are asymptomatic...

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Marasmus
Jumat, 2026-05-29 05:42:07

malnutrition characterized by energy deficiency. It can be distinguished from kwashiorkor in that kwashiorkor is protein deficiency with adequate energy intake...

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Endemic Goiter
Selasa, 2025-08-05 20:22:42

Endemic Goiter: The Adaptation of Man to Iodine Deficiency is a monograph about a study of endemic goiters conducted in Mendoza Province, Argentina by...

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Plummer–Vinson syndrome
Kamis, 2026-05-14 01:34:33

rare disease characterized by dysphagia (difficulty swallowing), iron-deficiency anemia, atrophic glossitis (inflammation of the tongue), angular cheilitis...

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Krabbe disease
Kamis, 2026-06-04 01:43:55

in an autosomal recessive manner. Mutations in the GALC gene cause a deficiency of the enzyme galactosylceramidase (GALC). In rare cases, it may be caused...

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Factor V
Minggu, 2026-02-01 06:45:23

it is not enzymatically active but functions as a cofactor. Factor V deficiency leads to predisposition for hemorrhage, while some mutations (most notably...

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Mecasermin
Kamis, 2025-07-03 19:26:56

stature in children with severe primary IGF-I deficiency, for instance due to growth hormone deficiency or Laron syndrome (growth hormone insensitivity)...

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Tangier disease
Jumat, 2025-08-15 18:05:37

bloodstream. This inability to transport cholesterol out of cells leads to a deficiency of high-density lipoproteins in the circulation, which is a risk factor...

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DNA repair
Minggu, 2026-05-17 15:09:31

such cancers ordinarily have epigenetic deficiencies in other DNA repair genes. These repair deficiencies would likely cause increased unrepaired DNA...

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Carnosinemia
Kamis, 2025-08-14 18:07:08

Carnosinemia is a rare autosomal recessive metabolic disorder caused by a deficiency of carnosinase, a dipeptidase (a type of enzyme that splits dipeptides...

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GM1 gangliosidoses
Selasa, 2026-06-02 07:33:33

caused by mutation in the GLB1 gene resulting in a deficiency of beta-galactosidase. The deficiency causes abnormal storage of acidic lipid materials in...

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Anencephaly
Selasa, 2026-05-12 19:17:55

anencephaly in humans. Animal models indicate a possible association with deficiencies of the transcription factor TEAD2. A woman who has had one child with...

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Desiderosmia
Sabtu, 2025-10-11 02:10:40

eat the substances in question. Desiderosmia can be a symptom of iron deficiency. It has been observed in pregnant women with low iron levels. Desiderosmia...

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Glycogen storage disease type V
Senin, 2026-01-12 11:06:51

myopathies, more specifically a muscle glycogen storage disease, caused by a deficiency of myophosphorylase. Its incidence is reported as one in 100,000, roughly...

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Mentzer index
Selasa, 2025-03-18 11:40:30

divided by the RBC count. It is said to be helpful in differentiating iron deficiency anemia from beta thalassemia trait. Mentzer Index = MCV (fL) RBC (millions/...

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Mineral (nutrient)
Senin, 2026-04-13 01:04:04

to address mineral deficiencies in particular soils. Examples include molybdenum deficiency, manganese deficiency, zinc deficiency, and so on. The gap...

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GLUT1
Selasa, 2026-02-24 05:25:27

emerging body plan. Mutations in this gene can cause GLUT1 deficiency syndrome 1, GLUT1 deficiency syndrome 2, idiopathic generalized epilepsy 12, dystonia...

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Journal of Acquired Immune Deficiency Syndromes
Selasa, 2026-01-06 08:20:29

The Journal of Acquired Immune Deficiency Syndromes is a peer-reviewed medical journal covering all aspects of research in HIV/AIDS, including basic science...

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Protein–energy malnutrition
Senin, 2025-06-09 17:14:30

malnutrition predominant) Marasmus (deficiency in calorie intake) Marasmic kwashiorkor (marked protein deficiency and marked calorie insufficiency signs...

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Hematinic
Senin, 2023-07-24 13:47:20

are iron, Vitamin B12, and folate. Deficiency in hematinics can lead to anaemia. In cases of hematinic deficiency, hematinics can be administered as medicines...

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Human nutrition
Kamis, 2026-05-14 10:31:33

testing for deficiencies, many developing nations have not been able to fully detect and address vitamin A deficiency, leaving vitamin A deficiency considered...

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DAVID syndrome
Sabtu, 2026-01-10 09:53:34

with variable immune deficiency syndrome, is a rare genetic disorder that is characterized by adrenocorticotropic hormone deficiency combined with common...

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Canavan disease
Minggu, 2026-05-24 06:05:32

most common degenerative cerebral diseases of infancy. It is caused by a deficiency of the enzyme aspartoacylase, and is one of a group of genetic diseases...

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Eladocagene exuparvovec
Senin, 2026-05-11 11:19:17

product for the treatment of aromatic L‑amino acid decarboxylase (AADC) deficiency. It infuses the gene encoding for the human aromatic L-amino acid decarboxylase...

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Dihydrotestosterone
Minggu, 2026-01-18 18:40:38

elucidated in studies of individuals with congenital 5α-reductase type 2 deficiency, an intersex condition caused by a loss-of-function mutation in the gene...

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Vitamer
Kamis, 2026-01-29 06:47:50

prevents the symptoms of deficiency of the vitamin. Early research identified vitamins by their ability to cure vitamin-specific deficiency diseases. For example...

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Anaphe venata
Sabtu, 2026-04-11 10:34:12

deficiency was first discovered in 1992 in Western Nigeria by Bola Adamolekun. Outbreaks, which have later on been thought to be due to B1 deficiency...

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Mucopolysaccharidosis type I
Sabtu, 2026-02-14 03:57:48

buildup of glycosaminoglycans (or GAGs, or mucopolysaccharides) due to a deficiency of alpha-L iduronidase, an enzyme responsible for the degradation of GAGs...

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Enolase deficiency
Selasa, 2025-12-09 02:20:35

Enolase deficiency is a rare genetic disorder of glucose metabolism. Partial deficiencies have been observed in several caucasian families. The deficiency is...

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Metachromatic leukodystrophy
Senin, 2026-04-20 14:09:39

sulfate accumulation. Metachromatic leukodystrophy, like most enzyme deficiencies, has an autosomal recessive inheritance pattern. Like many other genetic...

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Window tax
Selasa, 2026-03-17 08:42:12

His Majesty severall Rates or Duties upon Houses for making good the Deficiency of the clipped Money. [Chapter XVIII. Rot. Parl. 7&8 Gul. III. p.5.n.4]"...

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Human iron metabolism
Kamis, 2026-05-14 00:00:50

iron overload, such as hereditary hemochromatosis, and iron deficiency, such as iron-deficiency anemia. A 2024 review examined iron metabolism and its interactions...

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Vitamin C
Rabu, 2026-05-27 05:23:24

it is used to prevent and treat scurvy, a disease caused by vitamin C deficiency. Vitamin C may be taken by mouth or by intramuscular, subcutaneous or...

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Nutrition and cognition
Sabtu, 2025-10-11 02:16:59

carbohydrates provide the quickest source of glucose for the brain. Glucose deficiencies such as hypoglycaemia reduce available energy for the brain and impair...

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DNA mismatch repair
Selasa, 2025-09-30 05:46:43

the mismatch repair cancer syndrome (or constitutional mismatch repair deficiency, CMMR-D), manifesting as multiple occurrences of tumors at an early age...

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Degree of unsaturation
Minggu, 2025-09-14 07:46:04

the degree of unsaturation (DU) (also known as the index of hydrogen deficiency (IHD), double bond equivalents (DBE), or unsaturation index) is a calculation...

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Primary immunodeficiency
Kamis, 2026-02-05 23:02:55

normally. To be considered a primary immunodeficiency (PID), the immune deficiency must be inborn, not caused by secondary factors such as other disease...

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List of skin conditions
Rabu, 2026-04-22 07:34:42

Niacin deficiency (pellagra, vitamin B3 deficiency) Selenium deficiency Vitamin B1 deficiency (beriberi, thiamine deficiency) Vitamin B12 deficiency (cyanocobalamin...

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Sacrosidase
Minggu, 2024-03-03 21:12:12

of the genetically determined sucrase deficiency that is part of the Congenital Sucrase-Isomaltase Deficiency (CSID). Sacrosidase assists in the breakdown...

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Argininemia
Kamis, 2026-01-01 00:05:52

Argininemia is an autosomal recessive urea cycle disorder where a deficiency of the enzyme arginase causes a buildup of arginine and ammonia in the blood...

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21-Deoxycortisol
Selasa, 2025-12-23 13:36:52

due to 21-hydroxylase deficiency, even in mild (non-classic) cases. It can be also used for newborn screening. The deficiency of the 21-hydroxylase enzyme...

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Dopamine transporter deficiency syndrome
Minggu, 2026-03-15 13:34:53

Dopamine transporter deficiency syndrome (DTDS), also known as infantile parkinsonism-dystonia, is a rare movement disorder that causes progressively worsening...

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Hypoprolactinemia
Selasa, 2024-06-11 17:00:30

Hypoprolactinemia is a medical condition characterized by a deficiency in the serum levels of the hypothalamic-pituitary hormone prolactin. Hypoprolactinemia...

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Anemia in pregnancy
Minggu, 2026-05-10 03:16:26

disease. Dietary deficiencies: Folate deficiency and vitamin B12 deficiency are common causes of anemia in pregnancy. Folate deficiency occurs due to diets...

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Cytochrome c oxidase
Minggu, 2026-04-05 02:26:36

The enzyme cytochrome c oxidase or Complex IV (was EC 1.9.3.1, now reclassified as a translocase EC 7.1.1.9) is a large transmembrane protein complex found...

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Erythropoietic protoporphyria
Selasa, 2026-02-24 08:30:12

porphyria, which varies in severity and can be very painful. It arises from a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin...

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Cold sensitivity
Minggu, 2025-02-09 21:29:19

symptom of hypothyroidism, anemia, low body weight, iron deficiency, vitamin B12 deficiency, fevers, fibromyalgia or vasoconstriction. There may also...

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Glycogen storage disease type VI
Senin, 2025-11-10 05:32:10

disease type VI (GSD VI) is a type of glycogen storage disease caused by a deficiency in liver glycogen phosphorylase or other components of the associated...

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GM2-gangliosidosis, AB variant
Senin, 2025-12-29 15:51:49

Sandhoff disease has similar symptoms and prognosis, except that there is deficiency of both hexosaminidase A and hexosaminidase B. Infants with this disorder...

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ZC4H2-associated rare disorders
Senin, 2026-05-11 08:55:23

literature, an additional 46 diagnosed cases of males and females with ZC4H2 deficiency are known worldwide, constituting this an ultra-rare orphan disorder....

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Fosdenopterin
Selasa, 2025-12-23 03:11:24

risk of death due to a rare genetic disease known as molybdenum cofactor deficiency type A. The most common side effects include complications related to...

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Hurler syndrome
Sabtu, 2026-03-14 14:57:13

system, skeletal system, eyes, and heart. The underlying mechanism is a deficiency of alpha-L iduronidase, an enzyme responsible for breaking down GAGs....

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Intersex
Senin, 2026-06-08 05:01:46

the Prevalence section. In the Dominican Republic, 5-alpha-reductase deficiency is not uncommon in the town of Las Salinas, resulting in social acceptance...

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Acquired C1 esterase inhibitor deficiency
Kamis, 2026-04-02 23:28:43

Acquired C1 esterase inhibitor deficiency, also referred to as acquired angioedema (AAE), is a rare medical condition that presents as body swelling that...

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Korsakoff syndrome
Selasa, 2025-10-28 06:00:58

memory, and confabulation. This neurological disorder is caused by a deficiency of thiamine (vitamin B1) in the brain, and it is typically associated...

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Blue Fugates
Sabtu, 2026-04-18 04:34:30

native Alaskans, Cawein concluded that a deficiency of the enzyme diaphorase resulted in an oxygen deficiency in the red blood cells, causing the blood...

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Protein (nutrient)
Jumat, 2026-04-03 20:48:16

19–70 need to consume 56 grams of protein per day to minimize risk of deficiencies. These Recommended Dietary Allowances (RDAs) were calculated based on...

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Aniridia
Rabu, 2026-03-04 15:20:36

Inheritance in Man (OMIM): 206700 Aniridia, cerebellar ataxia, and mental deficiency (Gillespie syndrome) Aniridia can cause many symptoms, such as: Poor vision...

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Hypophosphatemia
Senin, 2026-03-02 13:58:29

coma, rhabdomyolysis, or softening of the bones. Nutritional phosphate deficiency is exceedingly rare as phosphate is abundant in most types of foods and...

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Maltase
Minggu, 2025-09-28 07:27:24

Alpha-Glucosidase Deficiency (Pompe Disease, Glycogen Storage Disease II, Acid Maltase Deficiency)". UpToDate. "Acid maltase deficiency". Gale Encyclopedia...

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Hypoplasminogenemia
Jumat, 2025-05-30 04:07:41

Hypoplasminogenemia, also known as plasminogen deficiency type 1, is a genetic disorder characterized by a lack of the protein plasminogen, which is responsible...

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Nutrition
Selasa, 2026-04-14 02:30:33

for humans were developed to address fears of disease caused by food deficiencies during the Great Depression and the Second World War. Due to its importance...

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Pterin-4 alpha-carbinolamine dehydratase deficiency
Jumat, 2024-10-25 21:31:53

Pterin-4 alpha-carbinolamine dehydratase deficiency (PCDD) is one of the known forms of tetrahydrobiopterin deficiency. This condition is associated with mutations...

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N-Acetylglutamate synthase deficiency
Rabu, 2025-11-19 01:57:43

N-Acetylglutamate synthase deficiency is an autosomal recessive urea cycle disorder. The symptoms are visible within the first week of life and if not...

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Hyperparathyroidism
Senin, 2026-01-19 23:42:44

cancer. Secondary hyperparathyroidism typically occurs due to vitamin D deficiency, chronic kidney disease, or other causes of low blood calcium. The diagnosis...

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Hypocalcemia
Kamis, 2026-05-21 18:13:04

hypoparathyroidism. Other causes include other forms of hypoparathyroidism, vitamin D deficiency, kidney failure, pancreatitis, calcium channel blocker overdose, rhabdomyolysis...

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CDawgVA
Senin, 2026-06-01 23:24:07

750 km (470 mi) "cyclethon" across Hokkaido to raise funds for the Immune Deficiency Foundation. The cycle was streamed on Twitch and raised over $310,000...

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Familial isolated vitamin E deficiency
Kamis, 2025-07-17 00:17:53

Familial isolated vitamin E deficiency or Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive neurodegenerative disease. Symptoms are...

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Congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency
Rabu, 2025-11-19 02:23:23

Congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency is an uncommon form of congenital adrenal hyperplasia (CAH) resulting...

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Wernicke encephalopathy
Kamis, 2026-01-22 17:43:50

thiamine (vitamin B1). The condition is part of a larger group of thiamine deficiency disorders that includes beriberi, in all its forms, and alcoholic Korsakoff...

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Magnesium aspartate
Minggu, 2026-05-31 08:46:12

body. It is primarily used as a dietary supplement to address magnesium deficiency and is an ingredient in cosmetics and personal care products as a buffering...

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Pantoprazole
Sabtu, 2026-05-23 17:38:18

months). Deficiencies such as vitamin B12 deficiency, iron deficiency, and calcium deficiency may be seen with long term use. Vitamin B12 deficiency is due...

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Lyngstadaas syndrome
Minggu, 2025-12-07 03:08:58

steroid dehydrogenase deficiency, is a rare autosomal recessive liver disease involving an enzyme (steroid dehydrogenase) deficiency and dental anomalies...

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Thrombotic thrombocytopenic purpura
Selasa, 2026-05-26 01:45:33

by autoantibodies targeting ADAMTS13, or congenital TTP: an inherited deficiency of ADAMTS13 (known as the Upshaw–Schulman syndrome). In 1998, the majority...

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Insulin-like growth factor 1
Rabu, 2026-04-01 02:01:31

used for the treatment of growth failure in children with severe IGF1 deficiency. Cyclic glycine-proline (cGP) is a metabolite of hormone insulin-like...

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Malabsorption
Rabu, 2026-04-15 08:59:20

involves a single step in the absorptive process, as in primary lactase deficiency, or if the disease process is limited to the very proximal small intestine...

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11β-Hydroxyprogesterone
Selasa, 2025-12-23 13:59:26

11β-OHP occur in 21-hydroxylase deficiency. A study in 2017 has shown that in subjects with 21-hydroxylase deficiency, serum 11β-OHP concentrations range...

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Glucocorticoid deficiency 1
Rabu, 2025-11-12 05:11:23

Glucocorticoid deficiency 1 is an adrenocortical failure characterized by low levels of plasma cortisol produced by the adrenal gland despite high levels...

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Sialidosis
Selasa, 2026-02-24 05:43:42

(ML I) is an inherited lysosomal storage disease that results from a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). The lack of this...

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DNA repair-deficiency disorder
Selasa, 2025-09-30 17:53:28

A DNA repair-deficiency disorder is a medical condition due to reduced functionality of DNA repair. DNA repair defects can cause an accelerated aging disease...

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Bare lymphocyte syndrome
Minggu, 2025-09-07 20:17:12

comparatively rarer BLS I, also called "HLA class I deficiency" is associated with TAP2, TAP1, or TAPBP deficiencies. TAP (Transporter associated with antigen processing)...

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Methylmalonic acid
Sabtu, 2025-12-20 04:16:25

acid levels may indicate a vitamin B12 deficiency. The test is highly sensitive (those with vitamin B12 deficiency almost always have raised levels) but...

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Carnitine
Selasa, 2026-03-10 19:09:45

breast milk, if necessary. Two types of carnitine deficiency states exist. Primary carnitine deficiency is a genetic disorder of the cellular carnitine-transporter...

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Glycogen-branching enzyme deficiency
Jumat, 2025-09-12 00:10:14

Glycogen-branching enzyme deficiency (GBED) is an inheritable glycogen storage disease affecting American Quarter Horses and American Paint Horses. It...

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Isovaleric acidemia
Kamis, 2025-08-14 19:18:24

conditions, or dietary deficiency of biotin. Some patients with isovaleric acidemia may benefit from supplemental biotin. Biotin deficiency on its own can have...

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SLC13A5 citrate transporter disorder
Senin, 2026-03-23 11:23:16

Deborah A.; Minassian, Berge A.; Bailey, Rachel M. (2022-09-15). "SLC13A5 Deficiency Disorder: From Genetics to Gene Therapy". Genes. 13 (9): 1655. doi:10...

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Macrocytic anemia
Sabtu, 2025-11-08 04:22:40

DNA synthesis. Possible causes include folic acid and/or Vitamin B12 deficiencies, liver disease (including but not limited to results from chronic alcohol...

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Haemophilia A
Jumat, 2026-05-29 08:00:59

A (or hemophilia A) is a blood clotting disorder caused by a genetic deficiency in clotting factor VIII, thereby resulting in significant susceptibility...

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Neu–Laxova syndrome
Selasa, 2025-10-28 06:26:50

syndrome; Neu-Povýsilová syndrome; or 3-phosphoglycerate dehydrogenase deficiency, neonate form) is a rare autosomal recessive disorder characterized by...

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Total iron-binding capacity
Sabtu, 2025-07-19 14:34:51

perform this test when they are concerned about anemia, iron deficiency or iron deficiency anemia. However, because the liver produces transferrin, alterations...

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Copper in biology
Senin, 2026-04-27 13:14:50

of copper can result in a corresponding condition of copper excess or deficiency in the body, each of which has its own unique set of adverse health effects...

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Helicobacter pylori
Rabu, 2026-05-13 08:18:25

been linked to H. pylori include anemia due either to iron deficiency or vitamin B12 deficiency, diabetes, cardiovascular illness, and certain neurological...

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Homologous recombination
Senin, 2026-05-25 11:28:31

Cancer cells with BRCA mutations have deficiencies in homologous recombination, and drugs to exploit those deficiencies have been developed and used successfully...

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Dog food
Minggu, 2026-04-26 00:32:16

actually denatures some of nutritional elements of the food. Taurine deficiency has been found in dogs and cats fed extruded commercial diets. Not usually...

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Molybdenum
Jumat, 2026-05-29 00:22:52

and urate, in much the same way as molybdenum cofactor deficiency. Since pure molybdenum deficiency from this cause occurs primarily in adults, the neurological...

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Dark skin
Minggu, 2025-12-21 00:26:54

increased risk—especially in the winter—of vitamin D deficiency. As a consequence of vitamin D deficiency, they are at a higher risk of developing rickets...

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Aminoacylase 1 deficiency
Selasa, 2025-12-09 02:21:58

Aminoacylase 1 deficiency is a rare inborn error of metabolism. To date only 21 cases have been described. The clinical picture is heterogeneous and includes...

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Methylenetetrahydrofolate reductase
Rabu, 2025-11-05 03:59:53

gene are associated with methylenetetrahydrofolate reductase deficiency. Complex I deficiency with recessive spastic paraparesis has also been linked to...

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Alpha-mannosidosis
Jumat, 2026-01-30 04:22:53

affecting the production of the enzyme alpha-D-mannosidase, resulting in its deficiency. Consequently, if both parents are carriers, there will be a 25% chance...

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Leukotriene C4 synthase deficiency
Kamis, 2024-11-07 00:56:19

Leukotriene C4 synthase deficiency is an inborn error of metabolism. Deficiency of Leukotriene C4 synthase can lead to a reduction in Leukotriene C4.[citation...

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Adenylate kinase
Rabu, 2025-10-01 04:56:05

individuals with an AK2 deficiency will have sensorineural deafness. AK1 genetic ablation decreases tolerance to metabolic stress. AK1 deficiency induces fiber-type...

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High-molecular-weight kininogen
Sabtu, 2025-07-26 19:05:19

factor, - the eponyms being for people first reported to have HMWK deficiency. Its current accepted name is to contrast it with low-molecular-weight...

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Frank Wokes
Sabtu, 2026-02-21 19:43:53

his research on the nutritional aspects of Vitamin B12 and Vitamin B12 deficiency. He was an early advocate of food fortification. Wokes was born on 1 February...

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Warburg Micro syndrome
Minggu, 2026-02-08 01:32:09

Micro syndrome (WARBM), a complex hereditary spastic paraplegia or RAB18 deficiency, is a rare autosomal recessive genetic disorder characterized by congenital...

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Thrombin
Senin, 2026-01-26 10:55:05

residues promote the binding of prothrombin to phospholipid bilayers. Deficiency of vitamin K or administration of the anticoagulant warfarin inhibits...

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Macroovalocyte
Jumat, 2024-10-11 15:00:21

(Vitamin B-12 or folate deficiency) but may be seen with dyserythropoiesis. Although macroovalocytes are characteristic in these deficiency states, they are...

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Autosomal recessive GTP cyclohydrolase I deficiency
Senin, 2025-06-02 11:06:40

Autosomal recessive GTP cyclohydrolase I deficiency (AR-GTPCHD) is a disorder associated with the deficient operation of the enzyme GTP cyclohydrolase...

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