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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. [hÅâ²mÅsisâ²tinooÍ¡râ²ÄÂ·É]. Etymology: Gk, homos + (cystine); Gk, ouron, urine. a rare biochemical abnormality characterized by the abnormal presence of homocystine, an amino acid, in the blood and urine, which is caused by any of several enzyme deficiencies in the metabolic pathway of methionine to cystine.