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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.
An inherited metabolic disorder caused by a deficiency of an enzyme important in the metabolism of homocystine and characterized by the excretion of homocystine in the urine, mental retardation, dislocation of the crystalline lens of the eye, sparse blond hair, and cardiovascular and skeletal deformities.