cystathioninuria


cystathioninuria

 [sis″tah-thi″o-nin-u´re-ah] a hereditary disorder of cystathionine metabolism, marked by increased concentrations in the urine, and due to deficiency of γ-cystathionase; mental retardation may be associated.

cys·ta·thi·o·nin·u·ri·a

(sis'tă-thī'ō-nin-yū'rē-ă), [MIM*219500] A disorder characterized by inability to metabolize cystathionine, normally due to deficiency of cystathionase, with high concentration of the amino acid in blood, tissue, and urine; mental retardation is an associated condition; autosomal recessive inheritance.

cystathioninuria

(sĭs″tă-thī″ō-nī-nū′rē-ă) A hereditary disease caused by a deficiency of the enzyme important in metabolizing cystathionine, resulting in mental retardation, thrombocytopenia, and acidosis.