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Imerslund–Gräsbeck syndrome is a rare autosomal recessive, familial form of vitamin B12 deficiency caused by malfunction of the "Cubam" receptor located in the terminal ileum. This receptor is composed of two proteins, amnionless (AMN), and cubilin. A defect in either of these protein components can cause this syndrome.
Orotic aciduria (AKA hereditary orotic aciduria) is a disease caused by an enzyme deficiency, resulting in a decreased ability to synthesize pyrimidines.It was the first described enzyme deficiency of the de novo pyrimidine synthesis pathway.
Hypervitaminosis is a condition of abnormally high storage levels of vitamins, which can lead to various symptoms as over excitement, irritability, or even toxicity. Specific medical names of the different conditions are derived from the given vitamin involved: an excess of vitamin A , for example, is called hypervitaminosis A .
Hyperhomocysteinemia is typically managed with vitamin B 6, vitamin B 9 and vitamin B 12 supplementation. [4] Hyperhomocysteinemia is a risk factor for cardiovascular disease; supplements of these vitamins may slightly reduce stroke outcome but not myocardial infarction, death from any cause or adverse events.
Chronic vitamin B 6 supplementation, or acute parenteral or oral over‐dosages of vitamin B 6. [5] [4] [6] [7] [8] Risk factors: Impaired kidney function, parenteral nutrition [9] Diagnostic method: Serum testing for elevated levels of vitamin B 6, testing of tendon reflexes, nerve conduction studies and electrodiagnostic testing. [10] [11 ...
The test is used for further differential diagnosis and to check the effectiveness of treatment with vitamin B 12, the latter can prevent unnecessary injections (of vitamin B 12) in children. [51] For better comparability and interpretation of patient reports, Fowler et al have developed a protocol for a standardized vitamin B 12 responsiveness ...
Vitamin B12 deficiency is caused by a lack of intrinsic factor, as seen in pernicious anemia, causes a vitamin B12 deficiency. Pernicious anemia: D51.0: 9870: Pernicious anemia (also known as macrocytic achylic anemia, congenital pernicious anemia, juvenile pernicious anemia, and Vitamin B12 deficiency) is one of many types of the larger family ...
Serum vitamin B 12 is a medical laboratory test that measure vitamin B 12 only in the blood binding to both transcobalamins. [1] Most of the time, 80–94% of vitamin B 12 in the blood binds to haptocorrin , while only 6–20% is binds to transcobalamin ll. [ 2 ] Only transcobalamin ll is "active" and can be used by the body. [ 1 ]