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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]
The source of this increase may be one of many metabolic factors, only one of which is CBS deficiency. Others include the re-methylation defects (cobalamin defects, methionine synthase deficiency, MTHFR) and vitamin deficiencies including riboflavin (vitamin B2), pyridoxal phosphate (vitamin B6), folate (vitamin B9), and cobalamin (vitamin B12 ...
Diagnosis is typically based on blood levels of vitamin B 12 below 148–185 pmol/L (200 to 250 pg/mL) in adults. [2] Diagnosis is not always straightforward as serum levels can be falsely high or normal. [10] Elevated methylmalonic acid levels may also indicate a deficiency. [2]
In common forms of MTHFR deficiency, elevated plasma homocysteine levels have sometimes been treated with Vitamin B12 and low doses of folic acid. [2] Although this treatment significantly decreases the serum levels of homocysteine, this treatment is not thought to improve health outcomes. [11] [12] [13]
Vitamin B 12 deficiency has been observed in between 40% and 80% of the vegetarian population who do not also take a vitamin B 12 supplement or consume vitamin-fortified food. [36] In Hong Kong and India, vitamin B 12 deficiency has been found in roughly 80% of the vegan population.
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Increased homocysteine levels suggest tissue folate deficiency, but homocysteine is also affected by vitamin B 12 and vitamin B 6, renal function, and genetics. One way to differentiate between folate deficiency and vitamin B 12 deficiency is by testing for methylmalonic acid (MMA) levels.
The Methionine Synthase Reductase (MTRR) gene primarily acts in the reductive regeneration of cob(I)alamin (vitamin B12). [10] Cob(I)alamin is a cofactor that maintains activation of the methionine synthase enzyme (MTR) Methionine synthase , linking folate and methionine metabolism.
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