N-Acetylglutamate Synthetase (NAGS) Deficiency

  • J. P. Colombo
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 368)

Abstract

N-Acetylglutamate synthetase (NAGS) deficiency is a genetic disorder of ammonia detoxication. These disorders result in acute and chronic hyperammonemia, becoming evident in early infancy. They are associated with a high mortality and morbidity.

Keywords

Urea Arginine Cytosol Dermatitis Pyrophosphate 

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Copyright information

© Springer Science+Business Media New York 1994

Authors and Affiliations

  • J. P. Colombo
    • 1
  1. 1.Dept. of Clinical ChemistryInselspital. University of BerneBerneSwitzerland

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