citrullinemia


citrullinemia

 [sit-rul″ĭ-ne´me-ah] the presence in the blood of excessive citrulline, resulting from an error of metabolism" >inborn error of metabolism, marked by absence or deficiency of the enzyme argininosuccinate synthetase. The disorder, transmitted as an autosomal recessive trait, is manifested by hyperammonemia, vomiting, convulsions, and mental retardation.

cit·rul·li·ne·mi·a

(sit'rul-i-nē'mē-ă), [MIM*215700] 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.

citrullinemia

(sĭt′rə-lə-nē′mē-ə, sĭ-trŭl′ə-)n. Either of two inherited disorders of the urea cycle that result in elevated levels of citrulline in the blood, urine, and cerebrospinal fluid, the most severe form of which appears in neonatals and is fatal if untreated.

citrullinemia

Metabolic disease An AR condition caused by a defect in argininosuccinate synthase, resulting in an accumulation of citrulline in serum, CSF, and urine Clinical Severe vomiting, mental retardation, and early death in most Pts; onset may be delayed–late Sx include enuresis, delayed menarche, insomnia, sleep reversal, night sweats and terrors, diarrhea, tremors, episodic post-prandial confusion, hallucinations, coma, bizarre behavior misdiagnosed as mental disorder Lab Orotic aciduria, hyperammonemia