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citrullinemia

Pronunciation: sit'rul-i-ne'me-a

Definition: Urea cycle disorder in which citrulline concentrations in the blood, urine, and cerebrospinal fluid are elevated, because of deficiency of arginosuccinate synthetase (ASS); manifested clinically by lethargy, vomiting, ammonia intoxication, and mental retardation with onset usually in infancy; autosomal recessive inheritance, caused by mutation in the ASS gene on chromos ome 9 in some patients.

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

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