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Homocystinuria (HCU) is an inherited disorder of amino acid metabolism, caused by an enzymatic defect in a metabolic pathway that leads to increased levels of methionine.
Coronary artery disease, blood clots, and stroke are conditions caused by a combination of many genetic and environmental factors. Some rare MTHFR gene mutations can lead to homocystinuria, which is inherited in an autosomal recessive manner. Visit our Homocystinuria due to MTHFR deficiency webpage.