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Medical Term:

cystathioninuria

Pronunciation: sis′tă-thī′ō-nin-yū′rē-ă

Definition: 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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