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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]
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]
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.
Blood tests may show low levels of vitamin B 12, elevated levels of methylmalonic acid or homocysteine, and a routine complete blood counts may shows anemia with an elevated mean cell volume. [141] The presence of antibodies to gastric parietal cells and intrinsic factor may indicate pernicious anemia .
Both adults and children need folate to make normal red and white blood cells and prevent anemia, which causes fatigue, weakness, and inability to concentrate. [115] [116] Increased homocysteine levels suggest tissue folate deficiency, but homocysteine is also affected by vitamin B 12 and vitamin B 6, renal function, and
Hyperhomocysteinemia is a medical condition characterized by an abnormally large level of homocysteine in the blood. Mutations in CBS are the single most common cause of hereditary hyperhomocysteinemia. Genetic defects that affect the MTHFR, MTR, and MTRR/MS enzyme pathways can also contribute to high homocysteine levels. Inborn errors in CBS ...
Homocysteine is elevated (5-MTHF is used to convert homocysteine to methionine) as in vitamin B 12 deficiency, whereas methylmalonic acid is normal (elevated in vitamin B 12 deficiency). [citation needed] More specifically, according to a 2014 UK guideline, [30] A serum folate level of less than 7 nmol/L (3 μg/L) is indicative of folate ...
Elevated homocysteine is an independent risk factor for cardiovascular disease and inversely correlated to consumed vitamin B12/B6 and folate levels. [37] Homocysteine methylation to methionine is catalyzed by MTR, resulting in appropriate intracellular levels of methionine and tetrahydrofolate, alongside non-toxic homocysteine levels.