homocystinuria

homocystinuria [hō′mə-sĭs′tə-nur′ē-ə] n.

1. 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.