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As a consequence of the biochemical reactions in which homocysteine is involved, deficiencies of vitamin B 6, folic acid (vitamin B 9), and vitamin B 12 can lead to high homocysteine levels. [2] Other possible causes of hyperhomocysteinemia include genetics, excessive methionine intake, and other diseases. [3]
Homocystinuria (HCU) [2] is an inherited disorder of the metabolism of the amino acid methionine due to a deficiency of cystathionine beta synthase or methionine synthase. [3] It is an inherited autosomal recessive trait, which means a child needs to inherit a copy of the defective gene from both parents to be affected.
"B12" and "Cbl" redirect here. For other uses of B12, see B12 (disambiguation). For the musical group, see Carbon Based Lifeforms. Pharmaceutical compound Vitamin B12 General skeletal formula of cobalamins Stick model of cyanocobalamin (R = CN) based on the crystal structure Clinical data Other names Vitamin B12, vitamin B-12, cobalamin AHFS / Drugs.com Monograph MedlinePlus a605007 License ...
Methylenetetrahydrofolate reductase deficiency is the most common genetic cause of elevated serum levels of homocysteine (hyperhomocysteinemia). It is caused by genetic defects in MTHFR, which is an important enzyme in the methyl cycle. [1] Common variants of MTHFR deficiency are asymptomatic and have only minor effects on disease risk. [2]
An increase in both MMA and homocysteine distinguishes B 12 deficiency from folate deficiency because homocysteine alone increases in the latter. [ 57 ] [ 58 ] Elevated gastrin levels can be found in around 80–90% of PA cases, but they may also be found in other forms of gastritis.
Conversion of homocysteine to methionine requires folate and vitamin B 12. Elevated plasma homocysteine and low folate are associated with cognitive impairment, dementia and Alzheimer's disease. [62] [63] Supplementing the diet with folic acid and vitamin B 12 lowers plasma homocysteine. [63]
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In the body, homocysteine can be recycled into methionine or converted into cysteine with the aid of vitamin B 6, B 9, and B 12. [3] High levels of homocysteine in the blood (hyperhomocysteinemia) is regarded as a marker of cardiovascular disease, likely working through atherogenesis, which can result in ischemic injury.