N-carbamylglutamate protects patients with decompensated propionic aciduria from hyperammonaemia.

Abstract

In patients with propionic aciduria, the accumulating metabolite propionyl-CoA causes a disturbance of the urea cycle via the inhibition of N-acetylglutamate synthesis. Lack of this allosteric activator results in an inhibition of carbamoylphosphate synthase (CPS). This finally leads to hyperammonaemia. In two patients with decompensated propionic aciduria the CPS activator carbamylglutamate was tested for its ability to antagonize the propionyl-CoA associated hyperammonaemia. Oral carbamyl glutamate administration resulted in a significant increase in ammonia detoxification and could avoid further dialysis therapy. Safe, fast and easy to administer, carbamyl glutamate improves the acute therapy of decompensated propionic aciduria by increasing ammonia detoxification and avoiding hyperammonaemia.

• Authors: B Gebhardt, S Dittrich, S Parbel, S Vlaho, O Matsika, H Bohles
• Journal: Journal of inherited metabolic disease (J Inherit Metab Dis) Vol. 28 Issue 2 Pg. 241-4 ( 2005) ISSN: 0141-8955 [Print] United States
• PMID: 15877213 (Publication Type: Case Reports, Journal Article)

Chemical References

• Glutamates
• Propionates
• N-carbamylglutamate
• propionic acid

Topics

• Glutamates (administration & dosage)
• Humans
• Hyperammonemia (drug therapy, etiology, urine)
• Infant, Newborn
• Infant, Newborn, Diseases (drug therapy, urine)
• Male
• Metabolism, Inborn Errors (drug therapy, urine)
• Propionates (urine)
• Severity of Illness Index