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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.
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.
1. excess of cystathionine in the urine.
2. an inherited aminoacidopathy; a defect in cystathionine metabolism causes excess in urine and body tissues.
A hereditary disease caused by a deficiency of the enzyme important in metabolizing cystathionine, resulting in mental retardation, thrombocytopenia, and acidosis.