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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]
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.
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]
Methylenetetrahydrofolate reductase (MTHFR) is the rate-limiting enzyme in the methyl cycle, and it is encoded by the MTHFR gene. [5] Methylenetetrahydrofolate reductase catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine.
Blood tests: A blood test can measure vitamin B12 levels, along with other markers such as homocysteine and methylmalonic acid, which may also indicate a deficiency. Imaging studies: If gastrointestinal cancer is suspected, imaging techniques like CT scans, MRIs, or endoscopy are used to identify tumors or other abnormalities in the digestive ...
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 ...
There is an association between the blood levels of homocysteine and thrombosis, [16] although this has not been reported consistently in all studies. [5] Homocysteine levels are determined by mutations in the MTHFR and CBS genes, but also by levels of folic acid, vitamin B 6 and vitamin B 12, which depend on diet. [14]
Diagnosis is typically confirmed by blood tests, including a complete blood count, and serum folate levels. [1] Increased homocysteine levels may suggest deficiency state, but it is also affected by other factors. [1] Vitamin B 12 deficiency must be ruled out, if left untreated, may cause irreversible neurological damage. [1]