homocystinuria

noun

ho·​mo·​cys·​tin·​uria -ˌsis-tin-ˈ(y)u̇r-ē-ə 

: a metabolic disorder inherited as a recessive autosomal trait, caused by deficiency of an enzyme important in the metabolism of homocystine with resulting accumulation of homocystine in the body and its excretion in the urine, and characterized typically by intellectual disability, dislocation of the crystalline lenses, skeletal abnormalities, and thromboembolic disease