citrullinemia

citrullinemia /cit·rul·lin·emia/ (sit-rul″in-e´me-ah)

1. argininosuccinate synthase deficiency.

2. excess of citrulline in the blood.

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cit·rul·li·ne·mi·a (str-l-nm-, s-trl-)

n.

A disease of amino acid metabolism in which there are elevated levels of citrulline in the blood, urine, and cerebrospinal fluid; it is manifested clinically by vomiting, ammonia intoxication, and mental retardation beginning in infancy.

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citrullinemia

[-ē′mē·ə]

a disorder of amino acid metabolism caused by a deficiency of the enzyme argininosuccinic acid synthetase. The clinical features include vomiting, convulsions, and coma. It is treated with a low-protein diet that provides an essential amino acid mixture, ketoacid analogs of amino acids, and arginine.

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citrullinemia

a disease caused by a defect of urea metabolism resulting in a marked low level of citrulline. Caused by an inherited deficiency of arginosuccinate synthetase; reported in dogs and cattle. In cattle, it is characterized clinically by a sudden onset of depression, recumbency, opisthotonos and seizures in previously normal calves of up to 3 days of age.

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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