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Journal of Inherited Metabolic Disease

, Volume 28, Issue 2, pp 241–244 | Cite as

N-Carbamylglutamate protects patients with decompensated propionicaciduria from hyperammonaemia

  • B. Gebhardt
  • S. Dittrich
  • S. Parbel
  • S. Vlaho
  • O. Matsika
  • H. Bohles
Short Report

Summary

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.

Keywords

Public Health Ammonia Internal Medicine Urea Glutamate 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© SSIEM and Springer 2005

Authors and Affiliations

  • B. Gebhardt
    • 1
  • S. Dittrich
    • 1
  • S. Parbel
    • 1
  • S. Vlaho
    • 1
  • O. Matsika
    • 1
  • H. Bohles
    • 1
  1. 1.Department of General PaediatricsJohann Wolfgang Goethe University of Frankfurt a.M.FrankfurtGermany

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