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Homocysteine is a chemical that, at high levels, is a strong risk factor for cardiovascular disease. Elevation of the level of homocysteine in the plasma has been linked to cardiovascular disease (including myocardial infarction, stroke, thromboembolic disease, and intermittent claudication), even in people with normal cholesterol levels. High levels can be seen in people who have low levels of folic acid (vitamin B9) and vitamins B6 and B12.

Impaired enzyme function, as a result of genetic mutations or deficiency of essential vitamin cofactors, can lead to elevated homocysteine concentrations in circulation.