citrullinemia (redirected from Citrullinaemia)

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 [sit-rul″ĭ-ne´me-ah]

the presence in the blood of excessive citrulline, resulting from an 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.

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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