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

(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

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
References in periodicals archive ?
An elderly Japanese patient with adult-onset type II citrullinemia with a novel D493G mutation in the SLC25A13 gene.
She was admitted to Salmaniya Medical Complex (SMC) on May 1 to receive treatment for citrullinemia, a disorder that causes ammonia and other toxic substances to accumulate in the blood.
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.sup.-1] x [mL.sup.-1] at pH 7.0; undetectable in controls).
Two-year-old Emaan Salman was admitted to Salmaniya Medical Complex (SMC) on May 1 to receive treatment for Citrullinemia, a disorder that causes ammonia and other toxic substances to accumulate in the blood.
These values may be observed in infants with classic citrullinemia, which would most likely be detectable after prolonged storage without correction for storage time.
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.
We analyzed two urine samples from a patient with citrullinemia. The urine [sup.1]H-NMR spectrum showed citrulline multiplets (concentration, 825 [micro]mol/mmol of creatinine).
In acute neonatal citrullinemia, citrulline is substantially increased.
Des Moines, IA 50315 (515) 287-6798 (voice/fax) ??Jackie/Barker@hotmail.com 3,9 CHROMOSOME TRANSLOCATIONS See: Chromosome Deletions CHROMOSOME TRISOMY DISORDERS See: Chromosome 13 & 18 Disorders CHRONIC ENCEPHALITIS & EPILEPSY See: Rasmussen Syndrome CHRONIC FATIGUE SYNDROME CFIDS Association of America PO Box 220398 Charlotte, NC 28222-0398 (800) 442-3437 (704) 365-9755 (fax) ??info@cfids.org http://www.cfids.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., Ste.
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).
Adult-onset type II citrullinemia is associated with increased expression of TATI/PSTI in the liver and clearly increased serum concentrations.