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 ?
An elderly Japanese patient with adult-onset type II citrullinemia with a novel D493G mutation in the SLC25A13 gene.
One patient had isolated liver failure, 1 patient had citrullinemia type I, and 1 patient had hemophagocytic lymphohistiocytosis.
In January 2002, six more tests were added for the fatty acid oxidation disorders (MCAD, SCAD, LCAD and VLCAD) and two urea cycle disorders, arginosuccinic acidemia and citrullinemia.
The false-positive and -negative rates for acute neonatal citrullinemia and argininosuccinic aciduria appear to be low because we have diagnosed several cases in newborns.
Thus, ORA aciduria is observed in patients with ornithine carbamoylasetransferase deficiency (OCTD), an X-linked disorder, and could reveal heterozygosity after a protein load, and in citrullinemia, argininosuccinic aciduria, and argininemia (2, 3).
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.
Adult-onset type II citrullinemia is associated with increased expression of TATI/PSTI in the liver and clearly increased serum concentrations.
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).
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.
Patients with other urea cycle disorders, such as argininemia, citrullinemia, argininosuccinic aciduria, and lysinuric protein intolerance, as well as mitochondrial disorders (7), may also show a positive allopurinol test.