homocystinuria

noun
ho·​mo·​cys·​tin·​uria | \ -ˌsis-tin-ˈ(y)u̇r-ē-ə How to pronounce homocystinuria (audio) \

Medical Definition of homocystinuria

: 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

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