citrullinemia

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 chromosome 9 in some patients.

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cit·rul·lin·emia or chiefly Brit cit·rul·lin·aemia .si-trə-lə-'nē-mē-ə, si-.trəl-ə-'nē- n an inherited disorder of amino acid metabolism accompanied by excess amounts of citrulline in the blood, urine, and cerebrospinal fluid and by ammonia intoxication

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cit·rul·lin·emia (sit-rul″in-eґme-ə) either of two clinically and genetically distinct autosomal recessive aminoacidopathies caused by deficient argininosuccinate synthase activity. Called also argininosuccinate synthase deficiency and citrullinuria.