Search Results: Deficiency diseases
Redirect to:
Deficiency
Sabtu, 2024-03-09 15:54:58Look 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...
Click to read more »Malnutrition
Sabtu, 2026-05-30 16:51:43too many nutrients, resulting in health problems. Specifically, it is a deficiency, excess, or imbalance of energy, protein and other nutrients which adversely...
Click to read more »Anemia
Rabu, 2026-06-03 16:47:58donation. Causes of decreased production include iron deficiency, folate deficiency, vitamin B12 deficiency, thalassemia and a number of bone marrow tumors...
Click to read more »Vitamin B12 deficiency
Minggu, 2026-06-07 02:04:29Vitamin 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...
Click to read more »Thiamine deficiency
Jumat, 2026-04-03 08:08:26Thiamine 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...
Click to read more »Glucose-6-phosphate dehydrogenase deficiency
Selasa, 2026-05-05 05:21:27Glucose-6-phosphate dehydrogenase deficiency (G6PDD), also known as favism, is the most common enzyme deficiency anemia worldwide. It is an inborn error...
Click to read more »Vitamin D deficiency
Jumat, 2026-04-17 18:37:32Vitamin 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...
Click to read more »Deficiency judgment
Minggu, 2026-02-22 16:52:19A deficiency judgment is an unsecured money judgment against a borrower whose mortgage foreclosure sale did not produce sufficient funds to pay the underlying...
Click to read more »Zinc deficiency
Minggu, 2026-04-19 17:53:24Zinc 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...
Click to read more »Iodine deficiency
Sabtu, 2026-03-07 05:57:45Iodine 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...
Click to read more »5α-Reductase 2 deficiency
Kamis, 2026-04-02 22:48:285α-Reductase 2 deficiency (5αR2D) is an autosomal recessive condition caused by mutations impairing the function of SRD5A2, a gene located on chromosome...
Click to read more »Color blindness
Senin, 2026-06-01 18:51:20Color blindness or color vision deficiency (CVD) is the decreased ability to see color, differences in color, or distinguish shades of color. The severity...
Click to read more »Iron-deficiency anemia
Selasa, 2026-04-21 02:53:38Iron-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...
Click to read more »Dopamine beta hydroxylase deficiency
Jumat, 2026-05-22 04:17:30Dopamine beta (β)-hydroxylase deficiency is a human medical condition involving inadequate dopamine beta-hydroxylase. It is characterized by increased...
Click to read more »Pernicious anemia
Sabtu, 2026-02-07 07:01:25anemia 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...
Click to read more »Dwarfism
Kamis, 2026-06-04 14:07:37a genetic disorder whereby the limbs are diminutive. Growth hormone deficiency is responsible for most other cases. There are many other less common...
Click to read more »Deficiency (medicine)
Jumat, 2026-03-27 16:39:01can have chromosomal deficiencies, mental deficiencies, nutritional deficiencies, complement deficiencies, or enzyme deficiencies. Protein-energy malnutrition...
Click to read more »Growth hormone deficiency
Senin, 2026-05-11 04:56:00Growth hormone deficiency (GHD), or hyposomatotropism, is a medical condition resulting from not enough growth hormone (GH). Generally the most noticeable...
Click to read more »Fumarase deficiency
Selasa, 2026-02-24 00:53:05Fumarase deficiency (or fumaric aciduria) is an exceedingly rare autosomal recessive metabolic disorder in the Krebs cycle, characterized by a deficiency of...
Click to read more »HIV/AIDS
Sabtu, 2026-05-02 13:18:13documented deficiency. Dietary supplementation for people who are infected with HIV and who have inadequate nutrition or dietary deficiencies may strengthen...
Click to read more »Iron deficiency
Sabtu, 2026-05-30 21:52:52Iron 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...
Click to read more »Dihydropteridine reductase deficiency
Selasa, 2025-09-30 20:12:03Dihydropteridine reductase deficiency (DHPRD) is a genetic disorder affecting the tetrahydrobiopterin (BH4) synthesis pathway, inherited in the autosomal...
Click to read more »Vitamin B12
Minggu, 2026-05-31 02:25:47administered via intramuscular injection to treat deficiencies. In healthy adults, vitamin B12 deficiency is not common, mainly because body stores of the...
Click to read more »Folate deficiency
Sabtu, 2025-11-29 14:10:22Folate deficiency, also known as vitamin B9 deficiency, is a low level of folate and derivatives in the body. This may result in megaloblastic anemia...
Click to read more »Alpha-1 antitrypsin deficiency
Kamis, 2026-01-01 11:47:27Alpha-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...
Click to read more »B vitamins
Rabu, 2026-04-01 11:33:25needed] In cases of severe deficiency, B vitamins, especially B12, may also be delivered by injection to reverse deficiencies.[unreliable medical source...
Click to read more »Thiamine
Senin, 2026-06-08 02:52:08Supplements and medications are available to treat and prevent thiamine deficiency and the disorders that result from it such as beriberi and Wernicke encephalopathy...
Click to read more »Magnesium deficiency
Senin, 2026-02-02 10:42:56Magnesium deficiency is an electrolyte disturbance in which there is a low level of magnesium in the body. Symptoms include tremor, poor coordination,...
Click to read more »Vitamin A deficiency
Minggu, 2026-04-12 09:35:40Vitamin 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...
Click to read more »Ironmouse
Senin, 2026-06-01 23:25:54and has held fundraisers and served as a spokesperson for the Immune Deficiency Foundation. In 2024, she became the most-subscribed Twitch streamer of...
Click to read more »Vitamin D
Selasa, 2026-06-02 00:22:50prevent or treat vitamin D deficiency rickets and osteomalacia. There are many other health conditions linked to vitamin D deficiency. However, the evidence...
Click to read more »Citrin deficiency
Jumat, 2026-04-24 20:25:42Citrin deficiency (CD) is an inherited autosomal recessive metabolic condition and a urea cycle disorder. Citrin deficiency is a complex disorder with...
Click to read more »Riboflavin
Rabu, 2026-05-20 22:32:39of migraine headaches in adults. Riboflavin deficiency is rare and is usually accompanied by deficiencies of other vitamins and nutrients. It may be prevented...
Click to read more »Butyrylcholinesterase deficiency
Senin, 2026-03-23 19:55:21Butyrylcholinesterase deficiency (also known as pseudocholinesterase deficiency, and Succinylcholine Sensitivity is an autosomal recessive inherited blood...
Click to read more »Copper deficiency
Senin, 2025-11-10 18:39:40Copper 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...
Click to read more »Attention deficit hyperactivity disorder
Jumat, 2026-05-29 02:58:44been 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...
Click to read more »GLUT1 deficiency
Rabu, 2025-10-01 09:06:40GLUT1 deficiency syndrome, also known as GLUT1-DS, De Vivo disease or Glucose transporter type 1 deficiency syndrome, is an autosomal dominant genetic...
Click to read more »Nutrient deficiency
Selasa, 2018-12-18 08:43:58Nutrient deficiency may refer to: Malnutrition, a condition in animals that results from a diet deficient in calories and/or essential nutrients Micronutrient...
Click to read more »Porphyria
Rabu, 2026-05-06 11:17:02the specific mutation. Hepatic porphyrias are those in which the enzyme deficiency occurs in the liver. Hepatic porphyrias include acute intermittent porphyria...
Click to read more »Vitamin B6
Senin, 2026-04-20 20:54:40vegetarian or vegan diet does not put consumers at risk for deficiency. Dietary deficiency is rare. Classic clinical symptoms include rash and inflammation...
Click to read more »Calcium deficiency (plant)
Sabtu, 2026-03-28 01:30:25Calcium (Ca) deficiency is a plant disorder that can be caused by insufficient level of biologically available calcium in the growing medium, but is more...
Click to read more »Vitamin deficiency
Selasa, 2026-06-02 00:22:55Vitamin 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...
Click to read more »Electron deficiency
Selasa, 2025-06-24 08:49:02In chemistry, electron deficiency (and electron-deficient) is jargon that is used in two contexts: chemical species that violate the octet rule because...
Click to read more »Aromatase deficiency
Senin, 2026-04-13 09:57:20Aromatase deficiency is a rare condition characterized by extremely low levels or complete absence of the enzyme aromatase activity in the body. It is...
Click to read more »Cerebral creatine deficiency
Jumat, 2025-07-18 01:29:33Cerebral creatine deficiencies (CCDs) are a small group of inherited disorders that result from defects in creatine biosynthesis and transport. Commonly...
Click to read more »Ornithine transcarbamylase deficiency
Jumat, 2026-03-13 01:31:38Ornithine transcarbamylase deficiency also known as OTC deficiency is the most common urea cycle disorder in humans. Ornithine transcarbamylase, the defective...
Click to read more »Adenosine deaminase deficiency
Rabu, 2025-11-19 05:06:31Adenosine deaminase deficiency (ADA deficiency) is a metabolic disorder that causes immunodeficiency. It is caused by mutations in the ADA gene. It accounts...
Click to read more »Abetalipoproteinemia
Senin, 2026-06-08 07:27:15microsomal triglyceride transfer protein deficiency disease, MTP deficiency, and betalipoprotein deficiency syndrome) is a disorder characterized by abnormal...
Click to read more »Biotin deficiency
Selasa, 2026-05-12 21:58:38Biotin deficiency is a nutritional disorder which can become serious, even fatal, if allowed to progress untreated. It can occur in people of any age,...
Click to read more »Vitamin A
Senin, 2026-04-13 03:19:34of genes. Vitamin A deficiency is common in developing countries, especially in Sub-Saharan Africa and Southeast Asia. Deficiency can occur at any age...
Click to read more »Scurvy
Minggu, 2026-05-10 19:56:25scorbutus is a deficiency disease (state of malnutrition) resulting from a lack of vitamin C (ascorbic acid). Early symptoms of deficiency include weakness...
Click to read more »Congenital hypothyroidism due to iodine deficiency
Jumat, 2026-05-29 07:03:29Congenital hypothyroidism due to iodine deficiency (ICD-11), or congenital iodine deficiency syndrome (CIDS, ICD-10), is a medical condition present at...
Click to read more »Vitamin
Kamis, 2026-05-28 09:16:37If there is serious deficiency in one or more of these nutrients, a child may develop a deficiency disease. Even minor deficiencies may cause permanent...
Click to read more »Cerebral folate deficiency
Selasa, 2025-09-30 14:15:45Cerebral folate deficiency (CFD) is a condition in which concentrations of 5-methyltetrahydrofolate (5-MTHF) are low in the brain as measured in the cerebral...
Click to read more »Nitrogen deficiency
Selasa, 2026-01-27 06:15:05Nitrogen 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...
Click to read more »Immunodeficiency
Kamis, 2026-03-12 03:59:58reduced protection afforded by vaccines. Humoral immune deficiency (including B cell deficiency or dysfunction), with signs or symptoms depending on the...
Click to read more »Potassium deficiency (plants)
Sabtu, 2026-04-04 02:38:34Potassium deficiency, also known as potash deficiency, is a plant disorder caused by the depletion of potassium ions (K+) in the soil. Potassium deficiency causes...
Click to read more »Calcium deficiency
Selasa, 2026-05-05 19:24:06Calcium deficiency may refer to: Calcium deficiency (plant disorder) Hypocalcemia, a medical condition in humans where the Calcium blood serum levels...
Click to read more »Biotinidase deficiency
Kamis, 2025-08-21 00:48:09Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from proteins in the diet during digestion or from...
Click to read more »Boron deficiency (plant disorder)
Sabtu, 2026-04-11 16:16:49Boron deficiency is a common deficiency of the micronutrient boron in plants. It is the most widespread micronutrient deficiency around the world and causes...
Click to read more »Lactose intolerance
Selasa, 2026-05-19 20:58:08not 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...
Click to read more »Vitamin K
Selasa, 2026-06-02 15:31:38intermediate. The presence of uncarboxylated proteins indicates a vitamin K deficiency. Carboxylation allows them to bind (chelate) calcium ions, which they...
Click to read more »Hemoglobin
Selasa, 2026-05-19 08:18:14may cause both. In any case, hemoglobin deficiency decreases blood oxygen-carrying capacity. Hemoglobin deficiency is, in general, strictly distinguished...
Click to read more »T cell deficiency
Sabtu, 2026-05-30 06:41:52T cell deficiency is a deficiency of T cells, caused by decreased function of individual T cells, it causes an immunodeficiency of cell-mediated immunity...
Click to read more »Hexokinase deficiency
Kamis, 2024-10-31 19:33:57Hexokinase deficiency is an extremely rare autosomal recessive condition that falls under the category of erythroenzymopathies, or defects in red cell...
Click to read more »Androgen deficiency
Kamis, 2025-07-17 22:54:34Androgen deficiency is a medical condition characterized by insufficient androgenic activity in the body. Androgen deficiency most commonly affects women...
Click to read more »Coercive deficiency
Minggu, 2025-03-09 20:31:17In United States federal government finance, coercive deficiency is a process by which budget holders can allow themselves to run out of money prior to...
Click to read more »Mineral deficiency
Sabtu, 2025-05-24 05:10:14These deficiencies can result in many disorders including anemia and goitre. Examples of mineral deficiency include zinc deficiency, iron deficiency, and...
Click to read more »Latent iron deficiency
Jumat, 2025-07-18 00:10:00Latent iron deficiency (LID), also called iron-deficient erythropoiesis, is a medical condition in which there is evidence of iron deficiency without anemia...
Click to read more »Phosphofructokinase deficiency
Rabu, 2026-02-11 13:37:27Phosphofructokinase deficiency is a rare muscular metabolic disorder, with an autosomal recessive inheritance pattern. It is characterized as a deficiency in the Phosphofructokinase...
Click to read more »Glucocorticoid deficiency
Minggu, 2026-05-03 00:48:58Glucocorticoid deficiency is a condition where the body does not produce enough glucocorticoid hormones. Symptoms of glucocorticoid deficiency (having not...
Click to read more »GATA2 deficiency
Rabu, 2025-01-29 08:18:23GATA2 deficiency is a grouping of several disorders caused by common defect, namely, familial or sporadic inactivating mutations in one of the two parental...
Click to read more »Pyruvate kinase deficiency
Senin, 2025-12-01 20:41:37Pyruvate kinase deficiency (PKD) is an inherited metabolic disorder of the enzyme pyruvate kinase which affects the survival of red blood cells. Both autosomal...
Click to read more »CD55 deficiency
Rabu, 2024-10-16 22:30:13CD55 deficiency, also called DAF deficiency or CHAPLE syndrome, is a rare genetic disorder of the immune system. CHAPLE stands for "CD55 deficiency with...
Click to read more »PMM2 deficiency
Kamis, 2026-06-04 16:20:20PMM2 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...
Click to read more »Cant deficiency
Jumat, 2025-10-31 16:07:05In 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...
Click to read more »Choline
Selasa, 2026-05-05 22:04:34SAM is transformed into S-adenosyl homocysteine. Symptomatic choline deficiency causes non-alcoholic fatty liver disease and muscle damage. Excessive...
Click to read more »Goitre
Senin, 2026-05-11 11:00:27functioning properly. Worldwide, over 90% of goitre cases are caused by iodine deficiency. The term is from the Latin gutturia, meaning throat. Most goitres are...
Click to read more »Deficiency (statistics)
Selasa, 2025-10-28 19:59:40In statistics, the deficiency is a measure to compare a statistical model with another statistical model. The concept was introduced in the 1960s by the...
Click to read more »Potassium deficiency
Selasa, 2025-09-09 02:41:11Potassium deficiency may refer to: Hypokalemia in humans Potassium deficiency (plants) This disambiguation page lists articles associated with the title...
Click to read more »Micronutrient deficiency
Senin, 2026-04-13 08:32:08Micronutrient deficiency is defined as the sustained insufficient supply of vitamins and minerals needed for growth and development, as well as to maintain...
Click to read more »Plant nutrition
Sabtu, 2026-05-23 22:48:58be useful in identifying a deficiency are rare. Most deficiencies are multiple and moderate. However, while a deficiency is seldom that of a single nutrient...
Click to read more »Iron polymaltose
Jumat, 2026-05-15 11:38:50Iron(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...
Click to read more »LRBA deficiency
Kamis, 2025-07-17 00:50:08LRBA 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...
Click to read more »Factor XII deficiency
Selasa, 2025-05-27 11:04:31Factor XII deficiency is a deficiency in the production of factor XII (FXII), a plasma glycoprotein and clotting factor that participates in the coagulation...
Click to read more »Selenium deficiency
Rabu, 2025-03-12 16:38:10Selenium deficiency occurs when an organism lacks the required levels of selenium, a critical nutrient in many species. Deficiency, although relatively...
Click to read more »Intellectual disability
Kamis, 2026-05-21 01:55:30to natural deficiency and governmental inaction, are severely affected by iodine deficiency. India has 500 million people with a deficiency, 54 million...
Click to read more »Isolated 17,20-lyase deficiency
Selasa, 2026-03-03 00:59:33Isolated 17,20-lyase deficiency (ILD), also called isolated 17,20-desmolase deficiency, is a rare endocrine and autosomal recessive genetic disorder which...
Click to read more »Deficiency (graph theory)
Jumat, 2025-11-14 07:08:03Deficiency 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...
Click to read more »Myeloperoxidase deficiency
Minggu, 2025-09-28 02:55:00Myeloperoxidase deficiency is a disorder featuring lack in either the quantity or the function of myeloperoxidase–an iron-containing protein expressed...
Click to read more »Selective immunoglobulin A deficiency
Selasa, 2026-03-31 11:24:38immunoglobulin A (IgA) deficiency (SIgAD) is a kind of immunodeficiency, a type of hypogammaglobulinemia. People with this deficiency lack immunoglobulin...
Click to read more »Phenylketonuria
Sabtu, 2026-05-16 23:16:00renal insufficiency, osteoporosis, gastritis, esophagus, and kidney deficiencies, kidney stones, and hypertension. Additionally, mood disorders occur...
Click to read more »DOCK8 deficiency
Sabtu, 2025-12-13 18:24:01DOCK8 deficiency, also called DOCK8 immunodeficiency syndrome, is the autosomal recessive form of hyperimmunoglobulin E syndrome, a genetic disorder characterized...
Click to read more »Boron deficiency
Sabtu, 2019-12-28 05:10:33Boron deficiency may refer to: Boron deficiency (plant disorder), a nutritional disorder in plants Boron deficiency (medicine), a nutritional disorder...
Click to read more »Hyperlipidemia
Selasa, 2025-11-25 00:38:00hyperlipoproteinemia exists in several forms: Lipoprotein lipase deficiency (type Ia), due to a deficiency of lipoprotein lipase (LPL) or altered apolipoprotein...
Click to read more »Vitamin K deficiency
Kamis, 2026-01-29 08:13:36Vitamin K deficiency results from insufficient dietary vitamin K1 or vitamin K2 or both. Symptoms include bruising, petechiae, and hematomas. Vitamin K...
Click to read more »Ishihara test
Selasa, 2026-05-12 02:48:28Ishihara 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...
Click to read more »Pyruvate dehydrogenase deficiency
Rabu, 2026-03-11 07:37:39Pyruvate dehydrogenase deficiency (also known as pyruvate dehydrogenase complex deficiency or PDCD or PDH deficiency) is a rare neurodegenerative disorder...
Click to read more »Iodine deficiency in China
Senin, 2025-11-03 03:11:15Iodine 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...
Click to read more »3-Methylcrotonyl-CoA carboxylase deficiency
Sabtu, 2025-09-20 09:36:443-Methylcrotonyl-CoA carboxylase deficiency also known as 3-Methylcrotonylglycinuria is an inborn error of leucine metabolism and is inherited through...
Click to read more »Vitamin D deficiency in Australia
Jumat, 2025-10-10 21:03:00Vitamin 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...
Click to read more »Protein C deficiency
Sabtu, 2026-02-28 04:47:41Protein 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...
Click to read more »Mitochondrial complex II deficiency
Rabu, 2026-03-25 20:22:42Mitochondrial complex II deficiency, also called CII deficiency, is a rare mitochondrial disease caused by deficiency of mitochondrial complex II, also...
Click to read more »Alcohol flush reaction
Sabtu, 2026-05-02 02:00:08catabolic metabolism of alcohol, and is caused by an aldehyde dehydrogenase 2 deficiency. This syndrome has been associated with lower than average rates of alcoholism...
Click to read more »Molybdenum cofactor deficiency
Sabtu, 2025-11-15 04:30:36Molybdenum cofactor deficiency is a rare human disease in which the absence of molybdopterin – and consequently its molybdenum complex, commonly called...
Click to read more »Folate
Minggu, 2026-06-07 11:31:24Folate 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...
Click to read more »Pagophagia
Minggu, 2026-05-10 03:16:20nutritional deficiency. Similarly, folk wisdom also maintained that pica reflected an appetite to compensate for nutritional deficiencies, such as low...
Click to read more »Complement deficiency
Jumat, 2026-05-29 06:47:12Complement deficiency is an immunodeficiency of absent or suboptimal functioning of one of the complement system proteins. Because of redundancies in the...
Click to read more »5,10-methenyltetrahydrofolate synthetase deficiency
Senin, 2025-09-29 12:59:005,10-Methenyltetrahydrofolate synthetase deficiency (MTHFS deficiency) is a rare neurodevelopmental disorder caused by mutations affecting the MTHFS gene...
Click to read more »Hypopituitarism
Sabtu, 2025-11-01 13:49:16treat them directly. Deficiency of all anterior pituitary hormones is more common than individual hormone deficiency. Deficiency of luteinizing hormone...
Click to read more »Tetrahydrobiopterin deficiency
Rabu, 2025-12-24 13:30:49Tetrahydrobiopterin deficiency (THBD, BH4D) is a rare metabolic disorder that increases the blood levels of phenylalanine. Phenylalanine is an amino acid...
Click to read more »Branched-chain keto acid dehydrogenase kinase deficiency
Rabu, 2026-05-20 19:11:44dehydrogenase kinase deficiency (BCKDK deficiency) is a disease resulting from mutations of the BCKDK gene. Patients with BCKDK deficiency have low levels...
Click to read more »Phosphorus deficiency
Jumat, 2025-03-21 20:35:36Phosphorus deficiency is a plant disorder associated with insufficient supply of phosphorus. Phosphorus refers here to salts of phosphates (PO3−4), monohydrogen...
Click to read more »Vitamin E deficiency
Senin, 2025-10-06 20:04:29Vitamin E deficiency is a rare condition caused by low levels of vitamin E that may result from malabsorption disorders (such as abetalipoproteinemia,...
Click to read more »Rh deficiency syndrome
Kamis, 2025-06-26 18:43:13Rh deficiency syndrome is a type of hemolytic anemia that involves erythrocytes whose membranes are deficient in Rh antigens. It is considered a rare condition...
Click to read more »Isolated hypogonadotropic hypogonadism
Selasa, 2025-12-09 02:18:18hormone deficiency (IGD), is a condition which results in a small subset of cases of hypogonadotropic hypogonadism (HH) due to deficiency in or insensitivity...
Click to read more »Antithrombin III deficiency
Jumat, 2026-04-10 03:39:54Antithrombin III deficiency (abbreviated ATIII deficiency) is a deficiency of antithrombin III. This deficiency may be inherited or acquired. It is a rare...
Click to read more »Homocystinuria
Minggu, 2025-09-28 05:48:52inherited disorder of the metabolism of the amino acid methionine due to a deficiency of cystathionine beta synthase or methionine synthase. It is an inherited...
Click to read more »Humoral immune deficiency
Jumat, 2026-05-29 07:48:50agammaglobulinemia (btk deficiency, or Bruton's agammaglobulinemia), μ-Heavy chain deficiency, l 5 deficiency, Igα deficiency, BLNK deficiency, thymoma with immunodeficiency...
Click to read more »History of HIV/AIDS
Rabu, 2026-06-03 04:36:53agent. The syndrome was initially termed "GRID", or "gay-related immune deficiency"; other less common gay-specific terms included "gay compromise syndrome"...
Click to read more »Deficiency payments
Senin, 2022-02-07 03:44:36In the United States, deficiency payments are direct government payments made to farmers who participated in annual commodity programs for wheat, feed...
Click to read more »Lucky iron fish
Selasa, 2025-11-25 15:46:07provide dietary supplementation of iron to individuals affected by iron-deficiency anemia. The ingots are placed in a pot of boiling water to leach elemental...
Click to read more »Adrenal insufficiency
Kamis, 2025-07-17 22:15:58in regulating blood pressure, electrolytes, and metabolism as a whole. Deficiency of these hormones leads to symptoms ranging from abdominal pain, vomiting...
Click to read more »Protein S deficiency
Sabtu, 2026-05-30 06:01:20Protein S deficiency is a disorder associated with increased risk of venous thrombosis. Protein S, a vitamin K-dependent physiological anticoagulant, acts...
Click to read more »Holocarboxylase synthetase deficiency
Senin, 2025-12-29 10:42:28Holocarboxylase synthetase deficiency is an inherited metabolic disorder in which the body cannot use the vitamin biotin effectively. This disorder is...
Click to read more »Vitamin K deficiency bleeding
Minggu, 2026-05-10 15:53:09Vitamin K deficiency bleeding (VKDB) of the newborn, previously known as haemorrhagic disease of the newborn, is a rare form of bleeding disorder that...
Click to read more »Phenol sulfur transferase deficiency
Rabu, 2026-05-20 18:17:54Phenol sulfur transferase deficiency, in short PST deficiency, is the lack or the reduced activity of the functional enzyme phenol sulfur transferase...
Click to read more »Lecithin cholesterol acyltransferase deficiency
Jumat, 2026-02-06 14:24:46deficiency is a disorder of lipoprotein metabolism. The disease has two forms: Familial LCAT deficiency, in which there is complete LCAT deficiency,...
Click to read more »Lipoprotein lipase deficiency
Kamis, 2025-07-17 04:26:36Lipoprotein lipase deficiency is a genetic disorder in which a person has a defective gene for lipoprotein lipase, which leads to very high triglycerides...
Click to read more »Methylenetetrahydrofolate reductase deficiency
Senin, 2026-06-08 10:19:38Methylenetetrahydrofolate reductase deficiency is the most common genetic cause of elevated serum levels of homocysteine (hyperhomocysteinemia). It is...
Click to read more »Leukocyte adhesion deficiency
Minggu, 2025-09-21 01:52:32Leukocyte adhesion deficiency (LAD) is a rare autosomal recessive disorder characterized by immunodeficiency resulting in recurrent infections. LAD is...
Click to read more »Hypermethioninemia
Senin, 2026-02-09 10:33:15converted 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...
Click to read more »Hyponatremia
Minggu, 2026-06-07 08:47:04glucocorticoid and mineralocorticoid deficiency) Isolated hyperchlorhidrosis (Carbonic anhydrase XII deficiency), a rare genetic disorder which results...
Click to read more »Hyaluronidase deficiency
Rabu, 2025-11-12 05:14:31Hyaluronidase deficiency, also known as Mucopolysaccharidosis type IX or MPS IX, is a condition caused by mutations in the HYAL1 gene, and is characterized...
Click to read more »Beta-ketothiolase deficiency
Senin, 2025-12-29 10:39:36Beta-ketothiolase deficiency is a rare, autosomal recessive metabolic disorder in which the body cannot properly process the amino acid isoleucine or the...
Click to read more »WNT4 deficiency
Selasa, 2023-11-28 07:50:11WNT4 deficiency is a rare genetic disorder that affects females and it results in the underdevelopment and sometimes absence of the uterus and vagina....
Click to read more »NEMO deficiency syndrome
Minggu, 2026-03-15 02:45:39Nuclear factor-kappa B Essential Modulator (NEMO) deficiency syndrome is a rare type of primary immunodeficiency disease that has a highly variable set...
Click to read more »Ribose-5-phosphate isomerase deficiency
Minggu, 2025-11-09 01:34:03Ribose-5-phosphate isomerase deficiency (RPID) is an extremely rare human disorder caused by mutations in ribose-5-phosphate isomerase, an enzyme of the...
Click to read more »Luteal phase
Minggu, 2026-02-08 00:11:19The 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...
Click to read more »Complement 2 deficiency
Jumat, 2025-07-18 02:31:37Complement 2 deficiency is a type of complement deficiency caused by any one of several different alterations in the structure of complement component...
Click to read more »Fibrinogen deficiency
Minggu, 2025-11-23 03:34:43Fibrinogen deficiency, also known as factor I deficiency, is a rare inherited bleeding disorder related to fibrinogen function in the coagulation cascade...
Click to read more »Creatine transporter defect
Senin, 2025-12-15 09:14:25Creatine transporter deficiency (CTD) is an inborn error of creatine metabolism in which creatine is not properly transported to the brain and muscles...
Click to read more »Clinical endocannabinoid deficiency syndrome
Kamis, 2026-03-05 10:46:37Clinical endocannabinoid deficiency (CECD) is a medical theory that proposes that a deficiency of endocannabinoids is the underlying pathophysiology of...
Click to read more »Motivational deficiency disorder
Kamis, 2025-12-11 12:22:47Motivational 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...
Click to read more »Molybdenum deficiency
Kamis, 2025-12-11 11:32:54Molybdenum deficiency refers to the clinical consequences of inadequate intake of molybdenum in the diet. Because the amount of molybdenum required is...
Click to read more »Carbamoyl phosphate synthetase I deficiency
Kamis, 2025-12-25 20:47:53Carbamoyl phosphate synthetase I deficiency (CPS I deficiency) is an autosomal recessive metabolic disorder that causes ammonia to accumulate in the blood...
Click to read more »Coenzyme Q10 deficiency
Senin, 2025-09-29 19:51:30Coenzyme 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...
Click to read more »CDKL5 deficiency disorder
Kamis, 2026-05-14 16:40:08CDKL5 deficiency disorder (CDD) is a rare genetic disorder caused by pathogenic variants in the gene CDKL5. The symptoms of CDD include early infantile...
Click to read more »Aromatic L-amino acid decarboxylase deficiency
Minggu, 2026-04-26 10:39:51Aromatic L-amino acid decarboxylase deficiency, also known as AADC deficiency, is a rare genetic disorder caused by mutations in the DDC gene, which encodes...
Click to read more »Arginine:glycine amidinotransferase deficiency
Rabu, 2025-08-13 19:52:42Arginine:glycine amidinotransferase deficiency or AGAT deficiency is an autosomal recessive cerebral creatine deficiency caused by a deficiency of the enzyme arginine:glycine...
Click to read more »Iodised salt
Kamis, 2026-05-28 22:43:32iodine salts. The ingestion of iodine prevents iodine deficiency. Worldwide, iodine deficiency affects about two billion people and is the leading preventable...
Click to read more »Working capital
Selasa, 2026-06-02 04:27:15assets are less than current liabilities, an entity has a working capital deficiency, also called a working capital deficit and negative working capital. A...
Click to read more »Biotin
Jumat, 2026-05-08 06:33:40biotin deficiency, meaning deficiency due to too little biotin in the diet, is rare because biotin is contained in many foods. Subclinical deficiency can...
Click to read more »Retinol
Selasa, 2026-06-02 22:19:03and 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...
Click to read more »Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency
Rabu, 2025-12-24 11:24:44Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency is an uncommon form of congenital adrenal hyperplasia (CAH) resulting from a mutation...
Click to read more »Late onset congenital adrenal hyperplasia
Kamis, 2025-12-11 02:57:22present with signs of hyperandrogenism, rather than of glucocorticoid deficiency, a condition characterized by inadequate cortisol production. Cortisol...
Click to read more »Pellagra
Jumat, 2026-04-17 20:43:29to several mechanisms, classically as a result of niacin (vitamin B3) deficiency, which results in decreased nicotinamide adenine dinucleotide (NAD). Since...
Click to read more »Boron deficiency (medicine)
Senin, 2025-10-06 01:11:37Boron 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...
Click to read more »Subacute combined degeneration of spinal cord
Jumat, 2025-05-16 03:51:48result of vitamin B12 deficiency (most common). It may also occur similarly as result of vitamin E deficiency, and copper deficiency. It is usually associated...
Click to read more »3-Hydroxy-3-methylglutaryl-CoA lyase deficiency
Kamis, 2025-08-14 17:41:433-Hydroxy-3-methylglutaryl-CoA lyase deficiency, (HMGCLD) also known as HMGCL deficiency, HMG-CoA lyase deficiency, or hydroxymethylglutaric aciduria,...
Click to read more »Guanidinoacetate methyltransferase deficiency
Senin, 2026-05-18 23:59:58Guanidinoacetate methyltransferase deficiency (GAMT deficiency) is an autosomal recessive cerebral creatine deficiency that primarily affects the nervous...
Click to read more »Adenylosuccinate lyase deficiency
Jumat, 2025-09-19 18:35:07Adenylosuccinate lyase deficiency is a rare autosomal recessive metabolic disorder characterized by the appearance of succinylaminoimidazolecarboxamide...
Click to read more »Hypothyroidism
Kamis, 2026-04-09 07:53:53growth and intellectual development in the baby or congenital iodine deficiency syndrome. Worldwide, too little iodine in the diet is the most common...
Click to read more »Mental Deficiency Act 1913
Jumat, 2026-05-29 19:51:16The 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...
Click to read more »Aldolase A deficiency
Senin, 2025-08-18 10:14:39Aldolase A deficiency is an autosomal recessive metabolic disorder resulting in a deficiency of the enzyme aldolase A; the enzyme is found predominantly...
Click to read more »Galactose epimerase deficiency
Senin, 2023-11-20 21:08:21Galactose epimerase deficiency, also known as GALE deficiency, Galactosemia III and UDP-galactose-4-epimerase deficiency, is a rare, autosomal recessive...
Click to read more »Galactokinase deficiency
Jumat, 2025-08-15 13:17:08Galactokinase deficiency is an autosomal recessive metabolic disorder marked by an accumulation of galactose and galactitol secondary to the decreased...
Click to read more »Transaldolase deficiency
Selasa, 2025-10-14 18:59:25Transaldolase deficiency is a disease characterised by abnormally low levels of the transaldolase enzyme. It is a metabolic enzyme involved in the pentose...
Click to read more »Iron deficiency (disambiguation)
Rabu, 2016-06-29 09:09:53Iron deficiency is a common nutritional deficiency. Iron deficiency may also refer to: Iron deficiency anemia, decrease of red blood cells caused by a...
Click to read more »Factor VII deficiency
Kamis, 2025-12-04 14:48:17Factor 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...
Click to read more »Nutritional anemia
Senin, 2026-05-04 00:34:15Anemia 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...
Click to read more »ADH deficiency
Jumat, 2026-05-29 23:27:05ADH deficiency: Aldehyde dehydrogenase 2 deficiency more commonly known as alcohol flush reaction Antidiuretic hormone deficiency more commonly known...
Click to read more »Dihydropyrimidine dehydrogenase deficiency
Kamis, 2025-07-17 12:05:11Dihydropyrimidine dehydrogenase deficiency is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of...
Click to read more »Sepiapterin reductase deficiency
Sabtu, 2025-08-02 16:42:52Sepiapterin reductase deficiency is an inherited pediatric disorder characterized by movement problems, and most commonly displayed as a pattern of involuntary...
Click to read more »Systemic primary carnitine deficiency
Minggu, 2026-03-15 11:25:01Systemic primary carnitine deficiency (SPCD) is an inborn error of fatty acid transport caused by a defect in the transporter responsible for moving carnitine...
Click to read more »Dopamine
Sabtu, 2026-06-06 03:24:29the cofactor. Some of the cofactors also require their own synthesis. Deficiency in any required amino acid or cofactor can impair the synthesis of dopamine...
Click to read more »Hasbulla
Jumat, 2026-06-05 16:26:42is 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...
Click to read more »Adrenocorticotropic hormone deficiency
Kamis, 2025-07-17 22:16:33Adrenocorticotropic hormone deficiency is a rare disorder characterized by secondary adrenal insufficiency with minimal or no cortisol production and normal...
Click to read more »Fabry disease
Minggu, 2026-03-22 23:31:30lysosomal storage disorder that is caused by a deficiency of alpha-galactosidase A. This enzyme deficiency results in the accumulation of glycosphingolipids...
Click to read more »Xanthinuria
Jumat, 2025-08-15 15:15:29known as xanthine oxidase deficiency, is a rare genetic disorder causing the accumulation of xanthine. It is caused by a deficiency of the enzyme xanthine...
Click to read more »Mitochondrial trifunctional protein deficiency
Jumat, 2026-05-29 18:38:40Mitochondrial trifunctional protein deficiency (MTP deficiency or MTPD) is an autosomal recessive fatty acid oxidation disorder that prevents the body...
Click to read more »Fructose bisphosphatase deficiency
Selasa, 2025-07-15 11:11:05In fructose bisphosphatase deficiency, there is not enough fructose bisphosphatase for gluconeogenesis to occur correctly. Glycolysis (the breakdown of...
Click to read more »Dihydrofolate reductase deficiency
Selasa, 2026-05-05 05:53:23Dihydrofolate reductase deficiency (DHFR deficiency) is an ultra-rare condition with less than 20 reported cases within the literature, as of 2025. It...
Click to read more »6-phosphogluconate dehydrogenase deficiency
Rabu, 2025-11-19 01:58:346-Phosphogluconate dehydrogenase deficiency (6PGD deficiency), or partial deficiency, is an autosomal hereditary disease characterized by abnormally low...
Click to read more »Sanfilippo syndrome
Selasa, 2026-05-26 06:49:03can 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...
Click to read more »Hypogonadism
Jumat, 2026-05-22 06:00:44implies deficiency of reproductive hormones, with or without fertility defects. The term is less commonly used for infertility without hormone deficiency. There...
Click to read more »Manganese deficiency (plant)
Jumat, 2023-08-25 00:29:28Manganese (Mn) deficiency is a plant disorder that is often confused with, and occurs with, iron deficiency. Most common in poorly drained soils, also...
Click to read more »Growth hormone therapy
Senin, 2026-02-09 09:39:20gigantism), deficiency, the recent phenomenon of HGH controversies, growth hormone in sports, and growth hormone for cows. Growth hormone deficiency is treated...
Click to read more »Multiple sulfatase deficiency
Jumat, 2025-08-15 18:36:32Multiple sulfatase deficiency (MSD), also known as Austin disease, or mucosulfatidosis, is a very rare autosomal recessive lysosomal storage disease caused...
Click to read more »Congenital adrenal hyperplasia
Sabtu, 2026-02-21 05:35:56disorders characterized by impaired cortisol synthesis. It results from the deficiency of one of the five enzymes required for the synthesis of cortisol in the...
Click to read more »Ornithine translocase deficiency
Jumat, 2026-03-13 01:39:04Ornithine translocase deficiency, also called hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome, is a rare autosomal recessive urea cycle...
Click to read more »Glycerol kinase deficiency
Sabtu, 2025-08-02 09:45:07kinase deficiency (GKD) is an X-linked recessive enzyme defect that is heterozygous in nature. Three clinically distinct forms of this deficiency have been...
Click to read more »Factor X deficiency
Selasa, 2025-09-23 23:25:22Factor 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...
Click to read more »Hypoxia (medicine)
Kamis, 2026-06-04 17:29:28result, 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...
Click to read more »Antithrombin
Jumat, 2026-05-15 12:33:40acquired antithrombin deficiencies and an increased risk of any affected individual developing thrombotic disease. Antithrombin deficiency generally comes to...
Click to read more »6-Pyruvoyltetrahydropterin synthase deficiency
Senin, 2025-12-15 23:19:33synthase deficiency is an autosomal recessive disorder that causes malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. It is a recessive...
Click to read more »Carnitine palmitoyltransferase II deficiency
Sabtu, 2026-05-02 13:14:50Carnitine palmitoyltransferase II deficiency, sometimes shortened to CPT-II or CPT2, is an autosomal recessively inherited genetic metabolic disorder characterized...
Click to read more »Succinic semialdehyde dehydrogenase deficiency
Sabtu, 2026-05-09 03:07:21Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare autosomal recessive disorder of the degradation pathway of the inhibitory neurotransmitter...
Click to read more »Adenine phosphoribosyltransferase deficiency
Rabu, 2025-12-31 10:26:58Adenine phosphoribosyltransferase deficiency is a rare autosomal recessive metabolic disorder caused by mutations of the APRT gene. Adenine phosphoribosyltransferase...
Click to read more »D-bifunctional protein deficiency
Rabu, 2024-06-26 02:09:32D-Bifunctional protein deficiency is an autosomal recessive peroxisomal fatty acid oxidation disorder. Peroxisomal disorders are usually caused by a combination...
Click to read more »Glycogen storage disease
Senin, 2026-01-12 12:17:28also glycogenosis and dextrinosis) is a metabolic disorder caused by a deficiency of an enzyme or transport protein affecting glycogen synthesis, glycogen...
Click to read more »Apolipoprotein B deficiency
Kamis, 2026-04-09 23:07:06Apolipoprotein B deficiency or "familial hypobetalipoproteinemia" is an autosomal disorder caused by one of several possible mutations, either recessive...
Click to read more »Relative energy deficiency in sport
Rabu, 2026-01-07 20:00:56Relative energy deficiency in sport (RED-S) is a syndrome in which disordered eating (or low energy availability), amenorrhoea/oligomenorrhoea (in women)...
Click to read more »Iron deficiency (plant disorder)
Kamis, 2025-03-13 22:44:28Iron (Fe) deficiency is a plant disorder also known as "lime-induced chlorosis". It can be confused with manganese deficiency. If soil iron concentration...
Click to read more »Borderline intellectual functioning
Minggu, 2025-11-23 10:49:02mental retardation, borderline mental subnormality, borderline mental deficiency, borderline mental disability, borderline intelligence, deficientia intelligentiæ...
Click to read more »Proximal femoral focal deficiency
Jumat, 2026-03-20 18:13:46Proximal femoral focal deficiency (PFFD), also known as congenital femoral deficiency (CFD), is a rare, non-hereditary birth defect that affects the pelvis...
Click to read more »Neutrophil-specific granule deficiency
Selasa, 2026-04-07 05:15:36Neutrophil-specific granule deficiency (previously known as lactoferrin deficiency) is a rare congenital immunodeficiency characterized by an increased...
Click to read more »Pyruvate carboxylase deficiency
Rabu, 2025-09-24 14:19:32Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid to accumulate in the blood. High levels of these substances can damage...
Click to read more »Ornithine aminotransferase deficiency
Jumat, 2026-03-13 01:38:53Ornithine aminotransferase deficiency (also known as gyrate atrophy of the choroid and retina) is an inborn error of ornithine metabolism, caused by decreased...
Click to read more »MBL deficiency
Senin, 2026-04-20 15:25:15MBL deficiency or mannose-binding lectin deficiency is an illness that has an impact on immunity. Low levels of mannose-binding lectin, an immune system...
Click to read more »Disorders of diminished motivation
Rabu, 2026-05-06 23:31:11directing or allocating attention and motivation rather than a global deficiency in these processes. People with ADHD are often highly motivated towards...
Click to read more »Hypohidrosis
Selasa, 2026-03-10 09:36:27known as adiaphoresis, ischidrosis, oligidria, oligohidrosis and sweating deficiency. Causes include: Medications Anticholinergic agents Opioids Botulinum...
Click to read more »Lysosomal acid lipase deficiency
Jumat, 2025-08-15 18:34:53Lysosomal acid lipase deficiency (LAL deficiency or LAL-D) or Wolman disease, is an autosomal recessive inborn error of metabolism that results in the...
Click to read more »Purine nucleoside phosphorylase deficiency
Jumat, 2025-08-15 15:14:26Purine nucleoside phosphorylase deficiency is a rare autosomal recessive metabolic disorder which results in immunodeficiency. In addition to the symptoms...
Click to read more »Lupus
Minggu, 2026-05-31 22:27:58develop the disease. Female sex hormones, sunlight, smoking, vitamin D deficiency, and certain infections are also believed to increase a person's risk...
Click to read more »Hunter syndrome
Senin, 2026-04-06 12:44:10mucopolysaccharides) build up in body tissues. Hunter syndrome is caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S). The lack of this...
Click to read more »Adenosine deaminase 2 deficiency
Senin, 2026-01-26 13:01:19Deficiency of Adenosine deaminase 2 (DADA2) is a monogenic disease associated with systemic inflammation and vasculopathy that affects a wide variety of...
Click to read more »Very long-chain acyl-coenzyme A dehydrogenase deficiency
Sabtu, 2026-05-23 08:15:43Very long-chain acyl-coenzyme A dehydrogenase deficiency is a fatty-acid metabolism disorder which prevents the body from converting certain fats to energy...
Click to read more »Carnitine-acylcarnitine translocase deficiency
Rabu, 2025-11-19 02:23:12Carnitine-acylcarnitine translocase deficiency is a rare, autosomal recessive metabolic disorder that prevents the body from converting long-chain fatty...
Click to read more »Koilonychia
Rabu, 2026-05-13 23:27:00nail disease that can be a sign of hypochromic anemia, especially iron-deficiency anemia. It refers to abnormally thin nails (usually of the hand) which...
Click to read more »17β-Hydroxysteroid dehydrogenase III deficiency
Rabu, 2025-12-24 11:24:2017β-Hydroxysteroid dehydrogenase III deficiency is a rare autosomal recessive disorder of sexual development condition that is a cause of 46,XY disorder...
Click to read more »Glutathione synthetase deficiency
Minggu, 2025-11-30 17:19:10Glutathione synthetase deficiency (GSD) is a rare autosomal recessive metabolic disorder that prevents the production of glutathione. Glutathione helps...
Click to read more »Cytochrome P450 oxidoreductase deficiency
Senin, 2025-11-17 07:24:06Cytochrome P450 oxidoreductase deficiency (PORD) is a rare disease and inborn error of metabolism caused by deficiency of cytochrome P450 oxidoreductase...
Click to read more »Galactosialidosis
Jumat, 2026-01-30 04:23:05Galactosialidosis, also known as neuraminidase deficiency with beta-galactosidase deficiency, is a genetic lysosomal storage disease. It is caused by...
Click to read more »NGLY1 deficiency
Rabu, 2025-11-12 05:15:07NGLY1 deficiency is a very rare genetic disorder caused by biallelic pathogenic variants in NGLY1. It is an autosomal recessive disorder. Errors in deglycosylation...
Click to read more »P14 deficiency
Jumat, 2025-05-23 21:34:30P14 deficiency is a rare autosomal recessive disease characterized as a primary immunodeficiency syndrome. This disease was first identified within a white...
Click to read more »Platelet storage pool deficiency
Sabtu, 2026-05-30 05:37:30Platelet storage pool deficiency is a family of clotting disorders characterized by deficient granules in platelets. Individuals with these disorders have...
Click to read more »Hypoaldosteronism
Sabtu, 2024-09-07 05:02:05aldosterone deficiency Primary adrenal insufficiency Congenital adrenal hyperplasia (21 but not 11β and 17) Aldosterone synthase deficiency Secondary aldosterone...
Click to read more »Severe combined immunodeficiency
Minggu, 2026-05-03 16:58:37this enzyme causes elevated dGTP levels resulting in T-cell toxicity and deficiency. Inability of granulocyte precursors to form granules secondary to mitochondrial...
Click to read more »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...
Click to read more »Manganese deficiency
Minggu, 2019-12-29 15:32:05Manganese deficiency may refer to: Manganese deficiency (medicine) Manganese deficiency (plant) This disambiguation page lists articles associated with...
Click to read more »Terminal complement pathway deficiency
Rabu, 2025-11-19 02:34:21complement pathway deficiency is a genetic condition affecting the complement membrane attack complex (MAC). It involves deficiencies of C5, C6, C7, and...
Click to read more »Zinc deficiency (plant disorder)
Kamis, 2025-08-21 01:06:48Zinc deficiency occurs when plant growth is limited because the plant cannot take up sufficient quantities of this essential micronutrient from its growing...
Click to read more »Prekallikrein
Rabu, 2026-03-25 16:36:52Hereditary 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...
Click to read more »Loan deficiency payments
Jumat, 2023-01-06 09:31:37In United States agriculture policy, loan deficiency payments (LDP) are a farm income support program first authorized by the Food Security Act of 1985...
Click to read more »Golden mean (philosophy)
Jumat, 2026-06-05 08:12:10desirable 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...
Click to read more »Congenital hypothyroidism
Senin, 2026-04-06 21:20:27Congenital hypothyroidism (CH) is a thyroid hormone deficiency present at birth. If untreated soon after birth, severe congenital hypothyroidism can lead...
Click to read more »Feeble-minded
Rabu, 2025-12-03 20:02:24illnesses, deficiencies of the mind, and disabilities. At the time, mental deficiency encompassed all degrees of educational and social deficiency. Within...
Click to read more »Infant respiratory distress syndrome
Rabu, 2026-03-04 11:56:59Infant respiratory distress syndrome (IRDS), also known as surfactant deficiency disorder (SDD), and previously called hyaline membrane disease (HMD),...
Click to read more »List of primary immunodeficiencies
Rabu, 2026-03-11 16:32:19CARD11 deficiency MST1 deficiency TCRα deficiency LCK deficiency IL-21 deficiency IL-21R deficiency UNC119 deficiency NIK deficiency OX40 deficiency IKBKB...
Click to read more »Microcytic anemia
Selasa, 2025-12-02 07:52:21include: Childhood Iron deficiency anemia (50% of all anemias in humans are due to iron-deficiency) Thalassemia Adulthood Iron deficiency anemia Thalassemia...
Click to read more »Propionic acidemia
Jumat, 2026-01-09 18:02:21also known as propionic aciduria or propionyl-CoA carboxylase deficiency (PCC deficiency), is a rare autosomal recessive metabolic disorder, classified...
Click to read more »Citrullinemia
Rabu, 2026-02-11 06:11:49Deficiency; ASS Deficiency; Argininosuccinic Acid Synthetase Deficiency; CTLN1; Citrullinemia, Classic GeneReviews/NIH/UW entry on Citrin deficiency and...
Click to read more »Folinic acid
Senin, 2026-06-01 01:15:02colorectal cancer and pancreatic cancer, and may be used to treat folate deficiency, anemia, and methanol poisoning. It is taken by mouth, injection into...
Click to read more »Carnitine palmitoyltransferase I deficiency
Minggu, 2025-12-28 13:22:45Carnitine palmitoyltransferase I deficiency is a rare metabolic disorder that prevents the body from converting certain fats called long-chain fatty acids(LCFA)...
Click to read more »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...
Click to read more »Wernicke–Korsakoff syndrome
Minggu, 2026-05-24 00:54:50and impaired memory. The cause of the disorder is thiamine (vitamin B1) deficiency. This can occur due to eating disorders, malnutrition, and alcohol abuse...
Click to read more »Factor XIII deficiency
Selasa, 2025-06-10 04:50:42Factor XIII deficiency occurs exceedingly rarely, causing a severe bleeding tendency. The incidence is one in a million to one in five million people,...
Click to read more »Lesch–Nyhan syndrome
Senin, 2026-05-11 20:35:51inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This deficiency occurs due to mutations in...
Click to read more »Hereditary angioedema
Senin, 2026-06-01 21:03:47genetic alterations can precipitate the most common form of HAE, a "genetic deficiency in C1 inhibitor". However, forms of HAE have been identified that are...
Click to read more »Hypokalemia
Senin, 2026-01-26 11:16:23a deficiency of the 11-beta-hydroxysteroid dehydrogenase type 2 enzyme, which allows cortisols to stimulate aldosterone receptors. This deficiency—known...
Click to read more »Lysine
Jumat, 2026-06-05 05:40:57impaired fatty acid metabolism, anaemia, and systemic protein-energy deficiency. In contrast, an overabundance of lysine, caused by ineffective catabolism...
Click to read more »Endocrine disease
Kamis, 2025-12-04 13:52:05groups: Endocrine gland hypofunction/hyposecretion (leading to hormone deficiency) Endocrine gland hyperfunction/hypersecretion (leading to hormone excess)...
Click to read more »Isolated growth hormone deficiency
Selasa, 2024-03-12 10:51:23Isolated growth hormone deficiency (IGHD) is a rare congenital disorder characterized by growth hormone deficiency and postnatal growth failure. It is...
Click to read more »Androgen insensitivity syndrome
Jumat, 2026-04-03 20:46:15dehydrogenase 2 deficiency 17α-hydroxylase deficiency 17,20 lyase deficiency 17β-hydroxysteroid dehydrogenase deficiency 5α-reductase deficiency Androgen excess...
Click to read more »Prolidase deficiency
Rabu, 2025-07-16 05:12:07Prolidase deficiency (PD) is an extremely uncommon autosomal recessive disorder associated with collagen metabolism that affects connective tissues and...
Click to read more »Tyrosine hydroxylase deficiency
Senin, 2025-06-02 09:55:00Tyrosine hydroxylase deficiency (THD) is a disorder caused by disfunction of tyrosine hydroxylase, an enzyme involved in the biosynthesis of dopamine....
Click to read more »Short stature
Jumat, 2026-03-27 16:28:40conditions, such as chronic (prolonged) growth hormone or thyroid hormone deficiency, malnutrition, disease of a major organ system, mistreatment, treatment...
Click to read more »Cortisone reductase deficiency
Rabu, 2025-11-12 05:10:50Cortisone reductase deficiency is caused by dysregulation of the 11β-hydroxysteroid dehydrogenase type 1 enzyme (11β-HSD1), otherwise known as cortisone...
Click to read more »Manganese deficiency (medicine)
Kamis, 2025-05-08 01:04:12Manganese deficiency in humans results in several medical problems. Manganese is a vital element of nutrition in very small quantities (adult male daily...
Click to read more »Galactosemia
Selasa, 2026-05-05 06:20:42Galactosemia follows an autosomal recessive mode of inheritance that confers a deficiency in an enzyme responsible for adequate galactose degradation. Friedrich...
Click to read more »Short-chain acyl-coenzyme A dehydrogenase deficiency
Minggu, 2025-12-28 12:47:14Short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) is an autosomal recessive fatty acid oxidation disorder which affects enzymes required to...
Click to read more »Coagulation
Jumat, 2026-05-22 20:20:40hemophilia A (factor VIII deficiency), hemophilia B (factor IX deficiency or "Christmas disease") and hemophilia C (factor XI deficiency, mild bleeding tendency)...
Click to read more »Ibutamoren
Kamis, 2025-12-25 22:59:52these 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...
Click to read more »Mevalonate kinase deficiency
Minggu, 2026-03-15 04:03:14Mevalonate kinase deficiency (MKD) is an autosomal recessive metabolic disorder that disrupts the biosynthesis of cholesterol and isoprenoids. It is a...
Click to read more »Methylenetetrahydrofolate dehydrogenase 1 deficiency
Minggu, 2025-12-14 04:26:57Methylenetetrahydrofolate dehydrogenase 1 deficiency (MTHFD1 deficiency) is a disease resulting from mutations of the MTHFD1 gene. Patients with this...
Click to read more »Multiple carboxylase deficiency
Selasa, 2025-03-04 22:57:42Multiple carboxylase deficiency is a form of metabolic disorder involving failures of carboxylation enzymes. The deficiency can be in biotinidase or holocarboxylase...
Click to read more »Haemophilia C
Jumat, 2026-05-29 07:44:12antecedent (PTA) deficiency or Rosenthal syndrome) is a mild form of haemophilia affecting both sexes, due to factor XI deficiency. It predominantly...
Click to read more »Glutaminase deficiency
Minggu, 2023-05-07 20:18:15Glutaminase deficiency is a rare genetic disorder that presents in childhood. It is associated with epilepsy and usually results in an early demise. This...
Click to read more »Farber disease
Senin, 2026-03-09 13:41:45Farber disease (also known as Farber's lipogranulomatosis, acid ceramidase deficiency, "Lipogranulomatosis", and ASAH1-related disorders) is an extremely rare...
Click to read more »CD25 deficiency
Senin, 2024-03-18 16:36:40CD25 deficiency or interleukin 2 receptor alpha deficiency is an immunodeficiency disorder associated with mutations in the interleukin 2 receptor alpha...
Click to read more »Lactate dehydrogenase
Minggu, 2026-03-08 14:52:02dehydrogenase deficiency. Depending on which gene carries the mutation, one of two types will occur: either lactate dehydrogenase-A deficiency (also known...
Click to read more »Laron syndrome
Rabu, 2026-04-15 08:58:47also known as growth hormone insensitivity or growth hormone receptor deficiency (GHRD), is an autosomal recessive disorder characterized by a lack of...
Click to read more »Late-onset hypogonadism
Sabtu, 2026-06-06 06:34:22Late-onset hypogonadism (LOH) or testosterone deficiency syndrome (TDS) is a condition in older men characterized by measurably low testosterone levels...
Click to read more »PGM3 deficiency
Rabu, 2025-07-16 05:09:06PGM3 deficiency is a rare genetic disorder of the immune system associated with diminished phosphoglucomutase 3 function. PGM3 is an enzyme which in humans...
Click to read more »Hydroxocobalamin
Senin, 2026-02-02 23:59:45a dietary supplement. As a supplement it is used to treat vitamin B12 deficiency including pernicious anemia. Other uses include treatment for cyanide...
Click to read more »Nutritional deficiency eczema
Senin, 2025-11-17 08:43:03Nutritional deficiency eczema is a pattern of eczema with localized, thickened, scaling patches that have some characteristics of nummular eczema, seborrheic...
Click to read more »Chromium deficiency
Kamis, 2025-07-17 23:05:00Chromium deficiency is described as the consequence of an insufficient dietary intake of the mineral chromium. Chromium was first proposed as an essential...
Click to read more »Golden rice
Jumat, 2026-05-08 16:31:21that diet supplement programs have already reduced rates of vitamin A deficiency in the Philippines. To more widely impact diets of children deficient...
Click to read more »Complement 3 deficiency
Rabu, 2024-09-25 06:36:22Complement 3 deficiency is a genetic condition affecting complement component 3 (C3). People can suffer from either primary or secondary C3 deficiency. Primary...
Click to read more »Cytochrome b5 deficiency
Senin, 2025-11-17 07:24:07Cytochrome b5 deficiency is a rare condition and form of isolated 17,20-lyase deficiency caused by deficiency in cytochrome b5, a small hemoprotein that...
Click to read more »Creatine
Minggu, 2026-06-07 13:44:29cause L-arginine:glycine amidinotransferase deficiency and guanidinoacetate methyltransferase deficiency. Both biosynthetic defects are inherited in an...
Click to read more »Angular cheilitis
Jumat, 2026-03-13 23:37:34cheilitis with nutritional deficiencies, especially of the B (B2-riboflavin) vitamin and iron (which causes iron deficiency anemia), which in turn may...
Click to read more »Orotic aciduria
Jumat, 2025-08-15 15:13:17caused by an enzyme deficiency, resulting in a decreased ability to synthesize pyrimidines. It was the first described enzyme deficiency of the de novo pyrimidine...
Click to read more »D-glycerate dehydrogenase deficiency
Kamis, 2025-07-17 06:41:27D-glycerate dehydrogenase deficiency (or 3-phosphoglycerate dehydrogenase deficiency, PHGDH deficiency, PHGDHD) is a rare autosomal metabolic disease where...
Click to read more »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...
Click to read more »Leukocyte adhesion deficiency-1
Sabtu, 2026-03-28 15:45:47Leukocyte adhesion deficiency-1 (LAD1) is a rare and often fatal genetic disorder in humans. The main sign of the disease is life-threatening, recurrent...
Click to read more »Pantothenic acid
Senin, 2026-05-25 05:16:38pantothenic acid, at least in small amounts, is in almost all foods. Deficiency of pantothenic acid is very rare in humans. In dietary supplements and...
Click to read more »Formiminoglutamic acid
Rabu, 2026-01-14 02:37:56levels 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...
Click to read more »Galactose-1-phosphate uridylyltransferase deficiency
Jumat, 2025-08-15 13:17:57uridylyltransferase deficiency (classic galactosemia) is the most common type of galactosemia, an inborn error of galactose metabolism, caused by a deficiency of the...
Click to read more »Essential fatty acid
Senin, 2025-12-29 04:01:08conversion amount is small, requiring intake from food or supplements. Deficiency in omega−3 fatty acids is very common. The average American has a dietary...
Click to read more »Hypoestrogenism
Senin, 2026-05-25 16:53:18Hypoestrogenism, 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...
Click to read more »Alcoholic polyneuropathy
Senin, 2025-04-14 08:32:20polyneuropathy is caused primarily by chronic alcoholism; however, vitamin deficiencies are also known to contribute to its development. This disease typically...
Click to read more »Sulfite oxidase
Selasa, 2026-02-24 06:12:47functional sulfite oxidase causes a disease known as sulfite oxidase deficiency. This rare but fatal disease causes neurological disorders, intellectual...
Click to read more »Acute intermittent porphyria
Sabtu, 2025-11-15 19:51:46metabolic disorder affecting the production of heme resulting from a deficiency of the enzyme porphobilinogen deaminase. It is the most common of the...
Click to read more »Addison's disease
Kamis, 2026-05-14 03:59:56This can be due to damage or destruction of the adrenal cortex. These deficiencies include glucocorticoid and mineralocorticoid hormones as well. These...
Click to read more »Aminolevulinic acid dehydratase deficiency porphyria
Rabu, 2025-10-01 02:15:30Aminolevulinic acid dehydratase deficiency porphyria (also known as Doss porphyria, plumboporphyria, or ADP) is an extremely rare autosomal recessive metabolic...
Click to read more »Intrinsic factor
Minggu, 2026-05-31 20:16:58factor deficiency, malabsorption of vitamin B12, and subsequent megaloblastic anemia. Atrophic gastritis can also cause intrinsic factor deficiency and anemia...
Click to read more »Congenital hemolytic anemia
Sabtu, 2025-09-20 05:12:25spherocytosis 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...
Click to read more »Combined immunodeficiencies
Minggu, 2025-05-25 22:52:17Combined immune deficiencies (CIDs) are a diverse group of inherited immune disorders characterized by impaired T lymphocyte development, function, or...
Click to read more »Complement component 2
Senin, 2026-02-16 00:21:53which are a class of enzymes that cleave peptide bonds in other proteins. Deficiency of C2 has been associated with certain autoimmune diseases. The Complement...
Click to read more »Properdin deficiency
Minggu, 2024-08-18 07:55:00Properdin deficiency is a rare X-linked disease in which properdin, an important complement factor responsible for the stabilization of the alternative...
Click to read more »Electron-transferring-flavoprotein dehydrogenase
Sabtu, 2026-02-14 21:31:36encoded by the ETFDH gene. Deficiency in ETF dehydrogenase causes the human genetic disease multiple acyl-CoA dehydrogenase deficiency. ETF-QO links the oxidation...
Click to read more »Alpha-2-plasmin inhibitor deficiency
Sabtu, 2025-11-22 08:35:10Alpha-2-plasmin inhibitor deficiency, also known as alpha-2-antiplasmin deficiency or congenital alpha-2-antiplasmin deficiency, is a rare autosomal recessive...
Click to read more »IgG deficiency
Minggu, 2023-12-03 06:43:42IgG deficiency is a form of dysgammaglobulinemia where the proportional levels of the IgG isotype are reduced relative to other immunoglobulin isotypes...
Click to read more »Hardgainer
Sabtu, 2025-07-19 13:00:00maltase deficiency Carnitine deficiency Carnitine palmitoyltransferase II deficiency Debrancher Enzyme Deficiency Lactate dehydrogenase deficiency Mitochondrial...
Click to read more »Triosephosphate isomerase deficiency
Rabu, 2025-11-19 02:34:36Triosephosphate isomerase deficiency is a rare autosomal recessive metabolic disorder which was initially described in 1965. It is a unique glycolytic...
Click to read more »Fibular hemimelia
Senin, 2025-05-05 03:18:00Fibular hemimelia or longitudinal fibular deficiency is "the congenital absence of the fibula and it is the most common congenital absence of long bone...
Click to read more »Molybdenum deficiency (plant disorder)
Kamis, 2023-08-24 23:40:39Molybdenum (Mo) deficiency occurs when plant growth is limited because the plant cannot take up sufficient quantities of this essential micronutrient from...
Click to read more »Lipoid congenital adrenal hyperplasia
Jumat, 2025-08-15 09:30:36divided into:[citation needed] mineralocorticoid deficiency, glucocorticoid deficiency, sex steroid deficiency, and damage to gonads caused by lipid accumulation...
Click to read more »Porphyria cutanea tarda
Senin, 2026-05-04 12:11:56porphyrias, PCT does not cause severe illness. The disorder results from a deficiency of uroporphyrinogen III decarboxylase, used in the production of heme...
Click to read more »Red blood cell distribution width
Rabu, 2025-08-20 00:52:01differentiate 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)...
Click to read more »Pharmacosmos
Kamis, 2024-04-04 21:38:51Pharmacosmos is a pharmaceutical company specialized in treatment of iron deficiency anemia. Pharmacosmos was founded in Denmark in 1965 by Henry Marinus Christensen...
Click to read more »Thyroid
Jumat, 2026-05-29 05:12:24hormones: the most common cause is iodine deficiency. In iodine-deficient regions, hypothyroidism (due to iodine deficiency) is the leading cause of preventable...
Click to read more »Vitamin B3
Selasa, 2026-05-12 00:01:02dietary supplement is used to treat pellagra, a disease caused by niacin deficiency. Signs and symptoms of pellagra include skin and mouth lesions, anemia...
Click to read more »HADHA
Minggu, 2026-05-03 16:29:19associated with trifunctional protein deficiency or long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. HADHA is an 82.9 kDa protein composed...
Click to read more »Glutaric acidemia type 2
Sabtu, 2025-09-13 00:42:43cells, 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...
Click to read more »ZAP70 deficiency
Selasa, 2025-09-30 17:11:58ZAP70 deficiency, or ZAP70 deficient SCID, is a rare autosomal recessive form of severe combined immunodeficiency (SCID) resulting in a lack of CD8+ T...
Click to read more »Aldosterone synthase
Selasa, 2025-07-22 22:43:15oxidase deficiency type I and II. The corticosterone methyl oxidase deficiencies both share this effect however type I causes an overall deficiency of...
Click to read more »Iron supplement
Senin, 2026-04-06 09:52:18number of iron formulations used to treat and prevent iron deficiency including iron-deficiency anemia. For prevention they are only recommended in those...
Click to read more »2025 Romanian anti-judicial corruption protests
Kamis, 2026-05-14 22:38:40documentary 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...
Click to read more »Glycogen storage disease type 0
Rabu, 2026-04-22 01:29:30is a disease characterized by a deficiency in the glycogen synthase enzyme (GSY). Although glycogen synthase deficiency does not result in storage of extra...
Click to read more »Medium-chain acyl-coenzyme A dehydrogenase deficiency
Kamis, 2026-03-19 05:58:08Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency or MCADD) is a disorder of fatty acid oxidation that impairs the body's ability to break...
Click to read more »Intravenous iron infusion
Rabu, 2026-04-22 21:50:28into the bloodstream through a vein, in patients suffering iron deficiency, iron-deficiency anaemia and chronic kidney disease. IV iron infusions are recommended...
Click to read more »Nicomachean Ethics
Jumat, 2026-04-10 20:36:47found 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...
Click to read more »Sucrose intolerance
Jumat, 2026-05-08 04:25:28Sucrose intolerance or genetic sucrase-isomaltase deficiency (GSID) is the condition in which sucrase-isomaltase, an enzyme needed for proper metabolism...
Click to read more »Beta oxidation
Senin, 2026-03-16 05:57:04dehydrogenase (LCHAD) deficiency is a condition that affects mitochondrial function due to enzyme impairments. LCHAD deficiency is specifically caused...
Click to read more »Sermorelin
Rabu, 2026-01-21 09:29:28growth hormone (GH) secretion for the purpose of diagnosing growth hormone deficiency. It is a 29-amino acid polypeptide representing the 1–29 fragment from...
Click to read more »Glossitis
Minggu, 2026-03-08 05:07:51vitamin B2 deficiency is described as magenta. Vitamin B3 deficiency (pellagra) can cause glossitis. Vitamin B6 deficiency (pyridoxine deficiency) can cause...
Click to read more »Haemophilia B
Jumat, 2026-05-29 07:42:52gene 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...
Click to read more »List of causes of hypoglycemia
Jumat, 2026-06-05 03:37:32dehydrogenase deficiency 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency 3-Methylcrotonyl-CoA carboxylase deficiency ACAD9 deficiency Acetohexamide Ackee...
Click to read more »Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Selasa, 2026-05-12 07:36:53Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) is a genetic disorder characterized by impaired production of cortisol in the adrenal...
Click to read more »Iron
Rabu, 2026-06-03 05:52:51values is provided at Reference Daily Intake. Iron deficiency is the most common nutritional deficiency in the world. When loss of iron is not adequately...
Click to read more »Thrombophilia
Minggu, 2026-01-25 13:44:12form of thrombophilia to be identified by medical science, antithrombin deficiency, was identified in 1965, while the most common abnormalities (including...
Click to read more »Niemann–Pick disease
Jumat, 2025-12-05 09:47:32Niemann–Pick disease (NP), also known as acid sphingomyelinase deficiency (ASMD), is a group of rare genetic diseases of varying severity. These are inherited...
Click to read more »Growth hormone
Senin, 2026-05-18 17:51:22prescription drug to treat children's growth disorders and adult growth hormone deficiency. In the United States, it is only available legally from pharmacies by...
Click to read more »Cernunnos deficiency
Sabtu, 2025-07-19 12:23:06Cernunnos deficiency is a form of combined immunodeficiency characterized by microcephaly, due to mutations in the NHEJ1 gene, it is inherited via autosomal...
Click to read more »Osteomalacia
Rabu, 2026-06-03 18:44:53levels of circulating mineral ions (for example, caused by vitamin D deficiency or renal phosphate wasting) that result in decreased bone and tooth mineralization...
Click to read more »Isolated primary immunoglobulin M deficiency
Selasa, 2025-04-29 00:13:23Isolated primary immunoglobulin M deficiency is a poorly defined dysgammaglobulinemia. It is characterized by decreased levels of IgM. The levels of other...
Click to read more »Nutritional neuroscience
Sabtu, 2026-05-16 19:11:29subsequently affect neurotransmission, synaptic plasticity, and cell survival. Deficiency or excess of essential minerals (e.g. iron, zinc, copper, and magnesium)...
Click to read more »Radial dysplasia
Minggu, 2026-05-24 17:09:17Radial dysplasia, also known as radial club hand or radial longitudinal deficiency, is a congenital difference occurring in a longitudinal direction resulting...
Click to read more »Brunner syndrome
Rabu, 2025-09-10 04:03:05following signs and symptoms occur in people with monoamine oxidase A deficiency, which causes Brunner syndrome: lack of impulse control aggressive or...
Click to read more »Gene therapy
Kamis, 2026-05-28 08:41:45tiparvovec, a treatment for a rare inherited disorder, lipoprotein lipase deficiency, became the first treatment to be approved for clinical use in either...
Click to read more »Blurred vision
Rabu, 2025-07-16 23:41:41pseudomyopia, diabetes, cataract, pernicious anemia, vitamin B12 deficiency, thiamine deficiency, glaucoma, retinopathy, hypervitaminosis A, migraine, sjögren's...
Click to read more »Common variable immunodeficiency
Jumat, 2026-03-27 14:39:52Medscape. Retrieved February 17, 2016. "Common Variable Immune Deficiency". Immune Deficiency Foundation. Retrieved February 16, 2016. Common Variable Immunodeficiency :...
Click to read more »Rank (linear algebra)
Kamis, 2026-04-02 19:40:23is 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...
Click to read more »Sleep debt
Selasa, 2025-12-02 03:28:48PMID 25012962. S2CID 36653608. "Sleep Deprivation and Deficiency - What Are Sleep Deprivation and Deficiency? | NHLBI, NIH". 24 March 2022. Motomura Y, Kitamura...
Click to read more »Schindler disease
Kamis, 2026-06-04 22:26:10alpha-N-acetylgalactosaminidase deficiency, is a rare disease found in humans. This lysosomal storage disorder is caused by a deficiency in the enzyme alpha-NAGA...
Click to read more »Vitamin E
Kamis, 2026-05-21 04:39:15vitamin 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...
Click to read more »Methylmalonyl-CoA mutase deficiency
Minggu, 2025-11-23 05:48:31Methylmalonyl-CoA mutase deficiency is caused by genetic defect in the MUT gene responsible for encoding the enzyme. Deficiency in this enzyme accounts...
Click to read more »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...
Click to read more »Folliculitis
Minggu, 2026-05-31 14:33:20spp. Folliculitis can affect people of all ages.[citation needed] Iron-deficiency anemia is sometimes associated with chronic cases.[citation needed] Staphylococcus...
Click to read more »Lysosomal storage disease
Rabu, 2026-06-03 14:25:33disorders are caused by lysosomal dysfunction usually as a consequence of deficiency of a single enzyme required for the metabolism of lipids, glycoproteins...
Click to read more »Diabetes insipidus
Rabu, 2026-05-20 02:22:42different set of causes. Central DI (CDI), now known as arginine vasopressin deficiency (AVP-D), is due to a lack of vasopressin (antidiuretic hormone) production...
Click to read more »Antideficiency Act
Selasa, 2026-05-26 21:49:42War, to end the executive branch's long history of creating coercive deficiencies. Many agencies, particularly the military, would intentionally run out...
Click to read more »3-hydroxyacyl-coenzyme A dehydrogenase deficiency
Jumat, 2025-11-28 18:04:293-hydroxyacyl-coenzyme A dehydrogenase deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during...
Click to read more »Zinc
Jumat, 2026-06-05 21:56:22humans. Deficiency of zinc intake affects about two billion people in the developing world and is associated with many diseases. In children, deficiency causes...
Click to read more »Endemic goitre
Senin, 2025-04-07 11:57:17Endemic 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...
Click to read more »Ferritin
Senin, 2026-05-25 02:30:30soluble 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...
Click to read more »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...
Click to read more »Food fortification
Selasa, 2026-05-12 23:56:35practices since the 1920s to help prevent nutrient deficiencies in populations. Common nutrient deficiencies in a region often result from local soil conditions...
Click to read more »Cyanocobalamin
Kamis, 2026-05-28 08:20:22used to treat and prevent vitamin B 12 deficiency except in the presence of cyanide toxicity. The deficiency may occur in pernicious anemia, following...
Click to read more »Luteinizing hormone
Kamis, 2026-03-12 10:00:48Luteinizing hormone (LH, also known as luteinising hormone, lutropin and sometimes lutrophin) is a hormone produced by gonadotropic cells in the anterior...
Click to read more »List of genetic disorders
Kamis, 2026-04-23 04:12:50E, et al. (September 2018). "5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy...
Click to read more »Gaucher's disease
Selasa, 2026-04-14 02:28:34and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as glucosylceramidase), which...
Click to read more »Prune belly syndrome
Selasa, 2026-02-03 23:34:58proper place in the scrotum. Eagle JF, Barrett GS (1950). "Congenital deficiency of abdominal musculature with associated genitourinary abnormalities:...
Click to read more »Binding energy
Selasa, 2025-04-01 20:09:06In 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...
Click to read more »Purpura fulminans
Sabtu, 2026-02-28 06:18:37of 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...
Click to read more »Megaloblastic anemia
Sabtu, 2025-11-08 04:22:51most often due to hypovitaminosis, specifically vitamin B12 deficiency or folate deficiency. Loss of micronutrients may also be a cause. Megaloblastic...
Click to read more »Janus kinase 3 deficiency
Senin, 2025-11-17 07:56:03JAK3 (Janus kinase 3) deficiency is a dysfunction in cytokine receptor signalling and their production of cytokines. JAK3 is a tyrosine protein kinase...
Click to read more »Combined saposin deficiency
Selasa, 2026-05-05 05:53:02belongs to Lysosomal Storage Diseases(LSDs). Because of complete saposin deficiency, it can cause clinical features of 4 diseases(Gaucher's Disease, Metachromatic...
Click to read more »Rhizomelic chondrodysplasia punctata
Kamis, 2025-07-17 01:29:48shortening of the femur, resulting in short legs Post-natal growth problems (deficiency) Cataracts Intellectual disability Possible seizures Possible infections...
Click to read more »Acyl-CoA oxidase deficiency
Rabu, 2025-07-16 04:20:54Acyl-CoA oxidase deficiency is a rare genetic disorder that leads to significant damage and deterioration of nervous system functions (neurodegeneration)...
Click to read more »Nutrient
Jumat, 2026-05-08 15:18:54nutrient is a deficiency. Deficiencies can be due to several causes, including an inadequacy in nutrient intake, called a dietary deficiency, or any of several...
Click to read more »Mitochondrial myopathy
Senin, 2026-05-18 04:58:52electrolyte imbalance, myasthenia gravis, thyroid abnormalities, vitamin D deficiency, immune-mediated necrotizing myopathy, diabetes-related pseudohypoxia...
Click to read more »Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
Rabu, 2025-12-24 13:59:08Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency is a form of congenital adrenal hyperplasia (CAH) which produces a higher than normal...
Click to read more »American Association on Intellectual and Developmental Disabilities
Jumat, 2026-05-01 21:37:10for the Study of the Feebleminded 1933: American Association on Mental Deficiency 1987: American Association on Mental Retardation 2007: American Association...
Click to read more »Congenital disorder of glycosylation type IIc
Senin, 2025-02-24 21:04:41glycosylation type IIc or Leukocyte adhesion deficiency-2 (LAD2) is a type of leukocyte adhesion deficiency attributable to the absence of neutrophil sialyl-LewisX...
Click to read more »Familial benign copper deficiency
Selasa, 2025-07-15 11:09:25Familial benign copper deficiency, also known as Familial benign hypocupremia is a rare genetic disorder which is characterized by hypocupremia that causes...
Click to read more »Panniculitis
Kamis, 2025-11-20 03:52:55cutaneous involvement (seen in up to 20 percent); Alpha 1-antitrypsin deficiency Crohn's disease This is not a complete list of possible causes. Lipoatrophy...
Click to read more »Factor XIII
Rabu, 2025-03-26 03:14:41activated by thrombin to factor XIIIa which crosslinks fibrin in coagulation. Deficiency of XIII worsens clot stability and increases bleeding tendency. Human...
Click to read more »Riboflavin-responsive exercise intolerance
Jumat, 2024-11-01 20:45:05Riboflavin-responsive exercise intolerance (SLC25A32 deficiency) is a rare disorder caused by mutations of the SLC25A32 gene that encodes the mitochondrial...
Click to read more »CSL Vifor
Senin, 2025-08-04 13:24:40global specialty pharmaceuticals company in the treatment areas of iron deficiency, dialysis, nephrology & rare disease. It is headquartered in Switzerland...
Click to read more »Somatorelin
Sabtu, 2023-05-13 19:23:23hormone deficiency. It is a recombinant version of growth hormone-releasing hormone (GHRH). Somatorelin has been used to study hormone deficiency (particularly...
Click to read more »Presentation of a group
Senin, 2026-01-19 06:28:07t−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...
Click to read more »Malonic aciduria
Senin, 2025-12-29 16:03:29Malonic aciduria or malonyl-CoA decarboxylase deficiency (MCD) is an autosomal-recessive metabolic disorder caused by a genetic mutation that disrupts...
Click to read more »Calcifediol
Senin, 2025-09-29 03:06:32performed to determine a person's vitamin D status, to show vitamin D deficiency or sufficiency. Calcifediol is available as an oral medication in some...
Click to read more »Micropenis
Senin, 2026-04-20 10:24:4720-lyase deficiency, 5α-reductase deficiency), androgen insensitivity syndromes, inadequate pituitary stimulation (gonadotropin deficiency), and other...
Click to read more »Hypoprothrombinemia
Sabtu, 2023-09-02 02:01:01Hypoprothrombinemia is a rare blood disorder in which a deficiency in immunoreactive prothrombin (Factor II), produced in the liver, results in an impaired...
Click to read more »Acid lipase disease
Jumat, 2025-11-21 01:38:14Acid lipase disease or deficiency is a name used to describe two related disorders of fatty acid metabolism. Acid lipase disease occurs when the enzyme...
Click to read more »Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
Minggu, 2025-12-28 12:38:43Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency is a rare autosomal recessive fatty acid oxidation disorder that prevents the body from converting...
Click to read more »List of OMIM disorder codes
Kamis, 2026-05-28 04:28:5020-lyase deficiency; 202110; CYP17A1 17-alpha-hydroxylase/17,20-lyase deficiency; 202110; CYP17A1 17-beta-hydroxysteroid dehydrogenase X deficiency; 300438;...
Click to read more »Adenosine monophosphate deaminase deficiency type 1
Minggu, 2026-01-11 23:05:10Adenosine monophosphate deaminase deficiency type 1 or AMPD1, is a human metabolic disorder in which the body consistently lacks the enzyme AMP deaminase...
Click to read more »Hereditary fructose intolerance
Senin, 2026-04-06 15:06:31intolerance (HFI) is an inborn error of fructose metabolism caused by a deficiency of the enzyme aldolase B. Individuals affected with HFI are asymptomatic...
Click to read more »Marasmus
Jumat, 2026-05-29 05:42:07malnutrition characterized by energy deficiency. It can be distinguished from kwashiorkor in that kwashiorkor is protein deficiency with adequate energy intake...
Click to read more »Endemic Goiter
Selasa, 2025-08-05 20:22:42Endemic Goiter: The Adaptation of Man to Iodine Deficiency is a monograph about a study of endemic goiters conducted in Mendoza Province, Argentina by...
Click to read more »Plummer–Vinson syndrome
Kamis, 2026-05-14 01:34:33rare disease characterized by dysphagia (difficulty swallowing), iron-deficiency anemia, atrophic glossitis (inflammation of the tongue), angular cheilitis...
Click to read more »Krabbe disease
Kamis, 2026-06-04 01:43:55in an autosomal recessive manner. Mutations in the GALC gene cause a deficiency of the enzyme galactosylceramidase (GALC). In rare cases, it may be caused...
Click to read more »Factor V
Minggu, 2026-02-01 06:45:23it is not enzymatically active but functions as a cofactor. Factor V deficiency leads to predisposition for hemorrhage, while some mutations (most notably...
Click to read more »Mecasermin
Kamis, 2025-07-03 19:26:56stature in children with severe primary IGF-I deficiency, for instance due to growth hormone deficiency or Laron syndrome (growth hormone insensitivity)...
Click to read more »Tangier disease
Jumat, 2025-08-15 18:05:37bloodstream. This inability to transport cholesterol out of cells leads to a deficiency of high-density lipoproteins in the circulation, which is a risk factor...
Click to read more »DNA repair
Minggu, 2026-05-17 15:09:31such cancers ordinarily have epigenetic deficiencies in other DNA repair genes. These repair deficiencies would likely cause increased unrepaired DNA...
Click to read more »Carnosinemia
Kamis, 2025-08-14 18:07:08Carnosinemia is a rare autosomal recessive metabolic disorder caused by a deficiency of carnosinase, a dipeptidase (a type of enzyme that splits dipeptides...
Click to read more »GM1 gangliosidoses
Selasa, 2026-06-02 07:33:33caused by mutation in the GLB1 gene resulting in a deficiency of beta-galactosidase. The deficiency causes abnormal storage of acidic lipid materials in...
Click to read more »Anencephaly
Selasa, 2026-05-12 19:17:55anencephaly in humans. Animal models indicate a possible association with deficiencies of the transcription factor TEAD2. A woman who has had one child with...
Click to read more »Desiderosmia
Sabtu, 2025-10-11 02:10:40eat the substances in question. Desiderosmia can be a symptom of iron deficiency. It has been observed in pregnant women with low iron levels. Desiderosmia...
Click to read more »Glycogen storage disease type V
Senin, 2026-01-12 11:06:51myopathies, more specifically a muscle glycogen storage disease, caused by a deficiency of myophosphorylase. Its incidence is reported as one in 100,000, roughly...
Click to read more »Mentzer index
Selasa, 2025-03-18 11:40:30divided 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/...
Click to read more »Mineral (nutrient)
Senin, 2026-04-13 01:04:04to address mineral deficiencies in particular soils. Examples include molybdenum deficiency, manganese deficiency, zinc deficiency, and so on. The gap...
Click to read more »GLUT1
Selasa, 2026-02-24 05:25:27emerging body plan. Mutations in this gene can cause GLUT1 deficiency syndrome 1, GLUT1 deficiency syndrome 2, idiopathic generalized epilepsy 12, dystonia...
Click to read more »Journal of Acquired Immune Deficiency Syndromes
Selasa, 2026-01-06 08:20:29The Journal of Acquired Immune Deficiency Syndromes is a peer-reviewed medical journal covering all aspects of research in HIV/AIDS, including basic science...
Click to read more »Protein–energy malnutrition
Senin, 2025-06-09 17:14:30malnutrition predominant) Marasmus (deficiency in calorie intake) Marasmic kwashiorkor (marked protein deficiency and marked calorie insufficiency signs...
Click to read more »Hematinic
Senin, 2023-07-24 13:47:20are iron, Vitamin B12, and folate. Deficiency in hematinics can lead to anaemia. In cases of hematinic deficiency, hematinics can be administered as medicines...
Click to read more »Human nutrition
Kamis, 2026-05-14 10:31:33testing for deficiencies, many developing nations have not been able to fully detect and address vitamin A deficiency, leaving vitamin A deficiency considered...
Click to read more »DAVID syndrome
Sabtu, 2026-01-10 09:53:34with variable immune deficiency syndrome, is a rare genetic disorder that is characterized by adrenocorticotropic hormone deficiency combined with common...
Click to read more »Canavan disease
Minggu, 2026-05-24 06:05:32most 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...
Click to read more »Eladocagene exuparvovec
Senin, 2026-05-11 11:19:17product for the treatment of aromatic L‑amino acid decarboxylase (AADC) deficiency. It infuses the gene encoding for the human aromatic L-amino acid decarboxylase...
Click to read more »Dihydrotestosterone
Minggu, 2026-01-18 18:40:38elucidated in studies of individuals with congenital 5α-reductase type 2 deficiency, an intersex condition caused by a loss-of-function mutation in the gene...
Click to read more »Vitamer
Kamis, 2026-01-29 06:47:50prevents the symptoms of deficiency of the vitamin. Early research identified vitamins by their ability to cure vitamin-specific deficiency diseases. For example...
Click to read more »Anaphe venata
Sabtu, 2026-04-11 10:34:12deficiency was first discovered in 1992 in Western Nigeria by Bola Adamolekun. Outbreaks, which have later on been thought to be due to B1 deficiency...
Click to read more »Mucopolysaccharidosis type I
Sabtu, 2026-02-14 03:57:48buildup of glycosaminoglycans (or GAGs, or mucopolysaccharides) due to a deficiency of alpha-L iduronidase, an enzyme responsible for the degradation of GAGs...
Click to read more »Enolase deficiency
Selasa, 2025-12-09 02:20:35Enolase deficiency is a rare genetic disorder of glucose metabolism. Partial deficiencies have been observed in several caucasian families. The deficiency is...
Click to read more »Metachromatic leukodystrophy
Senin, 2026-04-20 14:09:39sulfate accumulation. Metachromatic leukodystrophy, like most enzyme deficiencies, has an autosomal recessive inheritance pattern. Like many other genetic...
Click to read more »Window tax
Selasa, 2026-03-17 08:42:12His 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]"...
Click to read more »Human iron metabolism
Kamis, 2026-05-14 00:00:50iron overload, such as hereditary hemochromatosis, and iron deficiency, such as iron-deficiency anemia. A 2024 review examined iron metabolism and its interactions...
Click to read more »Vitamin C
Rabu, 2026-05-27 05:23:24it 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...
Click to read more »Nutrition and cognition
Sabtu, 2025-10-11 02:16:59carbohydrates provide the quickest source of glucose for the brain. Glucose deficiencies such as hypoglycaemia reduce available energy for the brain and impair...
Click to read more »DNA mismatch repair
Selasa, 2025-09-30 05:46:43the mismatch repair cancer syndrome (or constitutional mismatch repair deficiency, CMMR-D), manifesting as multiple occurrences of tumors at an early age...
Click to read more »Degree of unsaturation
Minggu, 2025-09-14 07:46:04the degree of unsaturation (DU) (also known as the index of hydrogen deficiency (IHD), double bond equivalents (DBE), or unsaturation index) is a calculation...
Click to read more »Primary immunodeficiency
Kamis, 2026-02-05 23:02:55normally. To be considered a primary immunodeficiency (PID), the immune deficiency must be inborn, not caused by secondary factors such as other disease...
Click to read more »List of skin conditions
Rabu, 2026-04-22 07:34:42Niacin deficiency (pellagra, vitamin B3 deficiency) Selenium deficiency Vitamin B1 deficiency (beriberi, thiamine deficiency) Vitamin B12 deficiency (cyanocobalamin...
Click to read more »Sacrosidase
Minggu, 2024-03-03 21:12:12of the genetically determined sucrase deficiency that is part of the Congenital Sucrase-Isomaltase Deficiency (CSID). Sacrosidase assists in the breakdown...
Click to read more »Argininemia
Kamis, 2026-01-01 00:05:52Argininemia is an autosomal recessive urea cycle disorder where a deficiency of the enzyme arginase causes a buildup of arginine and ammonia in the blood...
Click to read more »21-Deoxycortisol
Selasa, 2025-12-23 13:36:52due 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...
Click to read more »Dopamine transporter deficiency syndrome
Minggu, 2026-03-15 13:34:53Dopamine transporter deficiency syndrome (DTDS), also known as infantile parkinsonism-dystonia, is a rare movement disorder that causes progressively worsening...
Click to read more »Hypoprolactinemia
Selasa, 2024-06-11 17:00:30Hypoprolactinemia is a medical condition characterized by a deficiency in the serum levels of the hypothalamic-pituitary hormone prolactin. Hypoprolactinemia...
Click to read more »Anemia in pregnancy
Minggu, 2026-05-10 03:16:26disease. Dietary deficiencies: Folate deficiency and vitamin B12 deficiency are common causes of anemia in pregnancy. Folate deficiency occurs due to diets...
Click to read more »Cytochrome c oxidase
Minggu, 2026-04-05 02:26:36The 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...
Click to read more »Erythropoietic protoporphyria
Selasa, 2026-02-24 08:30:12porphyria, 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...
Click to read more »Cold sensitivity
Minggu, 2025-02-09 21:29:19symptom of hypothyroidism, anemia, low body weight, iron deficiency, vitamin B12 deficiency, fevers, fibromyalgia or vasoconstriction. There may also...
Click to read more »Glycogen storage disease type VI
Senin, 2025-11-10 05:32:10disease 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...
Click to read more »GM2-gangliosidosis, AB variant
Senin, 2025-12-29 15:51:49Sandhoff disease has similar symptoms and prognosis, except that there is deficiency of both hexosaminidase A and hexosaminidase B. Infants with this disorder...
Click to read more »ZC4H2-associated rare disorders
Senin, 2026-05-11 08:55:23literature, an additional 46 diagnosed cases of males and females with ZC4H2 deficiency are known worldwide, constituting this an ultra-rare orphan disorder....
Click to read more »Fosdenopterin
Selasa, 2025-12-23 03:11:24risk of death due to a rare genetic disease known as molybdenum cofactor deficiency type A. The most common side effects include complications related to...
Click to read more »Hurler syndrome
Sabtu, 2026-03-14 14:57:13system, skeletal system, eyes, and heart. The underlying mechanism is a deficiency of alpha-L iduronidase, an enzyme responsible for breaking down GAGs....
Click to read more »Intersex
Senin, 2026-06-08 05:01:46the Prevalence section. In the Dominican Republic, 5-alpha-reductase deficiency is not uncommon in the town of Las Salinas, resulting in social acceptance...
Click to read more »Acquired C1 esterase inhibitor deficiency
Kamis, 2026-04-02 23:28:43Acquired C1 esterase inhibitor deficiency, also referred to as acquired angioedema (AAE), is a rare medical condition that presents as body swelling that...
Click to read more »Korsakoff syndrome
Selasa, 2025-10-28 06:00:58memory, and confabulation. This neurological disorder is caused by a deficiency of thiamine (vitamin B1) in the brain, and it is typically associated...
Click to read more »Blue Fugates
Sabtu, 2026-04-18 04:34:30native Alaskans, Cawein concluded that a deficiency of the enzyme diaphorase resulted in an oxygen deficiency in the red blood cells, causing the blood...
Click to read more »Protein (nutrient)
Jumat, 2026-04-03 20:48:1619–70 need to consume 56 grams of protein per day to minimize risk of deficiencies. These Recommended Dietary Allowances (RDAs) were calculated based on...
Click to read more »Aniridia
Rabu, 2026-03-04 15:20:36Inheritance in Man (OMIM): 206700 Aniridia, cerebellar ataxia, and mental deficiency (Gillespie syndrome) Aniridia can cause many symptoms, such as: Poor vision...
Click to read more »Hypophosphatemia
Senin, 2026-03-02 13:58:29coma, rhabdomyolysis, or softening of the bones. Nutritional phosphate deficiency is exceedingly rare as phosphate is abundant in most types of foods and...
Click to read more »Maltase
Minggu, 2025-09-28 07:27:24Alpha-Glucosidase Deficiency (Pompe Disease, Glycogen Storage Disease II, Acid Maltase Deficiency)". UpToDate. "Acid maltase deficiency". Gale Encyclopedia...
Click to read more »Hypoplasminogenemia
Jumat, 2025-05-30 04:07:41Hypoplasminogenemia, also known as plasminogen deficiency type 1, is a genetic disorder characterized by a lack of the protein plasminogen, which is responsible...
Click to read more »Nutrition
Selasa, 2026-04-14 02:30:33for 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...
Click to read more »Pterin-4 alpha-carbinolamine dehydratase deficiency
Jumat, 2024-10-25 21:31:53Pterin-4 alpha-carbinolamine dehydratase deficiency (PCDD) is one of the known forms of tetrahydrobiopterin deficiency. This condition is associated with mutations...
Click to read more »N-Acetylglutamate synthase deficiency
Rabu, 2025-11-19 01:57:43N-Acetylglutamate synthase deficiency is an autosomal recessive urea cycle disorder. The symptoms are visible within the first week of life and if not...
Click to read more »Hyperparathyroidism
Senin, 2026-01-19 23:42:44cancer. Secondary hyperparathyroidism typically occurs due to vitamin D deficiency, chronic kidney disease, or other causes of low blood calcium. The diagnosis...
Click to read more »Hypocalcemia
Kamis, 2026-05-21 18:13:04hypoparathyroidism. Other causes include other forms of hypoparathyroidism, vitamin D deficiency, kidney failure, pancreatitis, calcium channel blocker overdose, rhabdomyolysis...
Click to read more »CDawgVA
Senin, 2026-06-01 23:24:07750 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...
Click to read more »Familial isolated vitamin E deficiency
Kamis, 2025-07-17 00:17:53Familial isolated vitamin E deficiency or Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive neurodegenerative disease. Symptoms are...
Click to read more »Congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency
Rabu, 2025-11-19 02:23:23Congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency is an uncommon form of congenital adrenal hyperplasia (CAH) resulting...
Click to read more »Wernicke encephalopathy
Kamis, 2026-01-22 17:43:50thiamine (vitamin B1). The condition is part of a larger group of thiamine deficiency disorders that includes beriberi, in all its forms, and alcoholic Korsakoff...
Click to read more »Magnesium aspartate
Minggu, 2026-05-31 08:46:12body. 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...
Click to read more »Pantoprazole
Sabtu, 2026-05-23 17:38:18months). Deficiencies such as vitamin B12 deficiency, iron deficiency, and calcium deficiency may be seen with long term use. Vitamin B12 deficiency is due...
Click to read more »Lyngstadaas syndrome
Minggu, 2025-12-07 03:08:58steroid dehydrogenase deficiency, is a rare autosomal recessive liver disease involving an enzyme (steroid dehydrogenase) deficiency and dental anomalies...
Click to read more »Thrombotic thrombocytopenic purpura
Selasa, 2026-05-26 01:45:33by autoantibodies targeting ADAMTS13, or congenital TTP: an inherited deficiency of ADAMTS13 (known as the Upshaw–Schulman syndrome). In 1998, the majority...
Click to read more »Insulin-like growth factor 1
Rabu, 2026-04-01 02:01:31used for the treatment of growth failure in children with severe IGF1 deficiency. Cyclic glycine-proline (cGP) is a metabolite of hormone insulin-like...
Click to read more »Malabsorption
Rabu, 2026-04-15 08:59:20involves 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...
Click to read more »11β-Hydroxyprogesterone
Selasa, 2025-12-23 13:59:2611β-OHP occur in 21-hydroxylase deficiency. A study in 2017 has shown that in subjects with 21-hydroxylase deficiency, serum 11β-OHP concentrations range...
Click to read more »Glucocorticoid deficiency 1
Rabu, 2025-11-12 05:11:23Glucocorticoid deficiency 1 is an adrenocortical failure characterized by low levels of plasma cortisol produced by the adrenal gland despite high levels...
Click to read more »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...
Click to read more »DNA repair-deficiency disorder
Selasa, 2025-09-30 17:53:28A DNA repair-deficiency disorder is a medical condition due to reduced functionality of DNA repair. DNA repair defects can cause an accelerated aging disease...
Click to read more »Bare lymphocyte syndrome
Minggu, 2025-09-07 20:17:12comparatively rarer BLS I, also called "HLA class I deficiency" is associated with TAP2, TAP1, or TAPBP deficiencies. TAP (Transporter associated with antigen processing)...
Click to read more »Methylmalonic acid
Sabtu, 2025-12-20 04:16:25acid levels may indicate a vitamin B12 deficiency. The test is highly sensitive (those with vitamin B12 deficiency almost always have raised levels) but...
Click to read more »Carnitine
Selasa, 2026-03-10 19:09:45breast milk, if necessary. Two types of carnitine deficiency states exist. Primary carnitine deficiency is a genetic disorder of the cellular carnitine-transporter...
Click to read more »Glycogen-branching enzyme deficiency
Jumat, 2025-09-12 00:10:14Glycogen-branching enzyme deficiency (GBED) is an inheritable glycogen storage disease affecting American Quarter Horses and American Paint Horses. It...
Click to read more »Isovaleric acidemia
Kamis, 2025-08-14 19:18:24conditions, or dietary deficiency of biotin. Some patients with isovaleric acidemia may benefit from supplemental biotin. Biotin deficiency on its own can have...
Click to read more »SLC13A5 citrate transporter disorder
Senin, 2026-03-23 11:23:16Deborah A.; Minassian, Berge A.; Bailey, Rachel M. (2022-09-15). "SLC13A5 Deficiency Disorder: From Genetics to Gene Therapy". Genes. 13 (9): 1655. doi:10...
Click to read more »Macrocytic anemia
Sabtu, 2025-11-08 04:22:40DNA synthesis. Possible causes include folic acid and/or Vitamin B12 deficiencies, liver disease (including but not limited to results from chronic alcohol...
Click to read more »Haemophilia A
Jumat, 2026-05-29 08:00:59A (or hemophilia A) is a blood clotting disorder caused by a genetic deficiency in clotting factor VIII, thereby resulting in significant susceptibility...
Click to read more »Neu–Laxova syndrome
Selasa, 2025-10-28 06:26:50syndrome; Neu-Povýsilová syndrome; or 3-phosphoglycerate dehydrogenase deficiency, neonate form) is a rare autosomal recessive disorder characterized by...
Click to read more »Total iron-binding capacity
Sabtu, 2025-07-19 14:34:51perform this test when they are concerned about anemia, iron deficiency or iron deficiency anemia. However, because the liver produces transferrin, alterations...
Click to read more »Copper in biology
Senin, 2026-04-27 13:14:50of 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...
Click to read more »Helicobacter pylori
Rabu, 2026-05-13 08:18:25been linked to H. pylori include anemia due either to iron deficiency or vitamin B12 deficiency, diabetes, cardiovascular illness, and certain neurological...
Click to read more »Homologous recombination
Senin, 2026-05-25 11:28:31Cancer cells with BRCA mutations have deficiencies in homologous recombination, and drugs to exploit those deficiencies have been developed and used successfully...
Click to read more »Dog food
Minggu, 2026-04-26 00:32:16actually denatures some of nutritional elements of the food. Taurine deficiency has been found in dogs and cats fed extruded commercial diets. Not usually...
Click to read more »Molybdenum
Jumat, 2026-05-29 00:22:52and urate, in much the same way as molybdenum cofactor deficiency. Since pure molybdenum deficiency from this cause occurs primarily in adults, the neurological...
Click to read more »Dark skin
Minggu, 2025-12-21 00:26:54increased 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...
Click to read more »Aminoacylase 1 deficiency
Selasa, 2025-12-09 02:21:58Aminoacylase 1 deficiency is a rare inborn error of metabolism. To date only 21 cases have been described. The clinical picture is heterogeneous and includes...
Click to read more »Methylenetetrahydrofolate reductase
Rabu, 2025-11-05 03:59:53gene are associated with methylenetetrahydrofolate reductase deficiency. Complex I deficiency with recessive spastic paraparesis has also been linked to...
Click to read more »Alpha-mannosidosis
Jumat, 2026-01-30 04:22:53affecting the production of the enzyme alpha-D-mannosidase, resulting in its deficiency. Consequently, if both parents are carriers, there will be a 25% chance...
Click to read more »Leukotriene C4 synthase deficiency
Kamis, 2024-11-07 00:56:19Leukotriene C4 synthase deficiency is an inborn error of metabolism. Deficiency of Leukotriene C4 synthase can lead to a reduction in Leukotriene C4.[citation...
Click to read more »Adenylate kinase
Rabu, 2025-10-01 04:56:05individuals with an AK2 deficiency will have sensorineural deafness. AK1 genetic ablation decreases tolerance to metabolic stress. AK1 deficiency induces fiber-type...
Click to read more »High-molecular-weight kininogen
Sabtu, 2025-07-26 19:05:19factor, - the eponyms being for people first reported to have HMWK deficiency. Its current accepted name is to contrast it with low-molecular-weight...
Click to read more »Frank Wokes
Sabtu, 2026-02-21 19:43:53his 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...
Click to read more »Warburg Micro syndrome
Minggu, 2026-02-08 01:32:09Micro syndrome (WARBM), a complex hereditary spastic paraplegia or RAB18 deficiency, is a rare autosomal recessive genetic disorder characterized by congenital...
Click to read more »Thrombin
Senin, 2026-01-26 10:55:05residues promote the binding of prothrombin to phospholipid bilayers. Deficiency of vitamin K or administration of the anticoagulant warfarin inhibits...
Click to read more »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...
Click to read more »Autosomal recessive GTP cyclohydrolase I deficiency
Senin, 2025-06-02 11:06:40Autosomal recessive GTP cyclohydrolase I deficiency (AR-GTPCHD) is a disorder associated with the deficient operation of the enzyme GTP cyclohydrolase...
Click to read more »