citrullinemia


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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.

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

/cit·rul·lin·emia/ (sit-rul″in-e´me-ah)
2. excess of citrulline in the blood.

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

[-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.

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

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.
References in periodicals archive ?
Samples with a secondary cause of underglycosylation were from 1 patient with severe liver failure of unknown etiology, 1 patient with citrullinemia type I with liver failure, 1 patient with hemophagocytic lymphohistiocytosis, and 1 patient with HUS due to Streptococcus pneumoniae infection who was positive for plasma sialidase (specific activity, 41 100 pmol x [h.
Pancreatic secretory trypsin inhibitor as a diagnostic marker for adult-onset type II citrullinemia.
The diagnoses made were long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (confirmed by mutation analysis), carnitine transporter defect (confirmed by cultured fibroblast fatty acid oxidation), and citrullinemia (confirmed by cultured fibroblast citrulline incorporation).
org 1,2,4,6,8 CHRONIC INFLAMMATORY DEMYELINATING POLYNEUROPATHY See: Autoimmune Disorders CHRONIC INFLAMMATORY DEMYELINATING POLYRADICULONEUROPATHY See: Guillain-Barre Syndrome CHRONIC LOCALIZED ENCEPHALITIS See: Rasmussen Syndrome CITRULLINEMIA See: Urea Cycle Disorders CLEFT PALATE See also: Craniofacial Disorders Cleft Palate Foundation 104 Estes Dr.
Urinary orotate may be high but possibly borderline in citrullinemia, ornithine carbamoyl-transferase deficiency, lysinuric protein intolerance, and the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, all disorders for which the biochemical diagnosis, however, is based on plasma ammonium and plasma and urinary amino acid profiles.