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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.
homocystinuria-caused by mutations in the MTHFR gene. At least 40 mutations in the MTHFR gene have been identified in people with homocystinuria, a disorder in which the body is unable to process certain amino acids properly.Most of these mutations change single amino acids in methylenetetrahydrofolate reductase.omocystinuria-caused by mutations in the MTHFR gene. At least 40 mutations in the MTHFR gene have been identified in people with homocystinuria, a disorder in which the body is unable to process certain amino acids properly.