cystathioninuria

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.

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cys·ta·thi·o·nin·u·ria (sis″tə-thi″o-ne-nuґre-ə) a benign autosomal recessive aminoacidopathy caused by mutations in the CTH gene (locus: 1p31.1), which encodes cystathionine γ-lyase, characterized by excess of cystathionine in urine and body tissues but without other clinical manifestations.