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cystathioninuria

Pronunciation: sis'ta-thi'o-nin-yu're-a

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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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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