homocystinuria (redirected from Cystathionine beta synthase deficiency)

homocystinuria /ho·mo·cys·tin·uria/ (-sis?tin-u´re-ah) excessive homocystine in the urine, having various causes, some genetic; symptoms include developmental delay, failure to thrive, neurological abnormalities, and others depending on the cause. Sometimes the term refers specifically to the disorder due to lack of the enzyme cystathionine ß-synthase.

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ho·mo·cys·ti·nu·ri·a (hm-sst-nr-)

n.

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.

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homocystinuria (hō´mōsis´tin-yoo´rē),

n a genetic disorder of amino acid metabolism in which the amino acid homocystine appears in the blood and urine; may respond to a low-protein diet and the administration of synthetic amino acids.