Hyperammonemia in Women with a Mutation at the Ornithine Carbamoyltransferase Locus
Open Access
- 7 June 1990
- journal article
- case report
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 322 (23) , 1652-1655
- https://doi.org/10.1056/nejm199006073222307
Abstract
ORNITHINE carbamoyltransferase deficiency is an X-linked disorder of urea synthesis. Its clinical manifestations — lethargy, vomiting, coma, and cerebral edema — are related to hyperammonemia and hyperglutaminemia. Other laboratory findings include low plasma levels of arginine, citrulline, and urea. Orotic aciduria also occurs commonly during hyperammonemic episodes.1Keywords
This publication has 15 references indexed in Scilit:
- Allopurinol-Induced OrotidinuriaNew England Journal of Medicine, 1990
- Late onset ornithine carbamoyl transferase deficiency in males.Archives of Disease in Childhood, 1988
- Ornithine Transcarbamylase Deficiency — A Cause of Bizarre Behavior in a ManNew England Journal of Medicine, 1986
- Natural History of Symptomatic Partial Ornithine Transcarbamylase DeficiencyNew England Journal of Medicine, 1986
- Differentiation of transient hyperammonemia of the newborn and urea cycle enzyme defects by clinical presentationThe Journal of Pediatrics, 1985
- Arginine, an indispensable amino acid for patients with inborn errors of urea synthesis.Journal of Clinical Investigation, 1984
- Treatment of Episodic Hyperammonemia in Children with Inborn Errors of Urea SynthesisNew England Journal of Medicine, 1984
- Plasma α-Ketoglutarate in Urea Cycle Enzymopathies and Its Role as a Harbinger of Hyperammonemic ComaPediatric Research, 1980
- Cerebral Dysfunction in Asymptomatic Carriers of Ornithine Transcarbamylase DeficiencyNew England Journal of Medicine, 1980
- Hereditary Metabolic Disorders of the Urea CyclePublished by Elsevier ,1971