N-Acetylglutamate Synthetase (NAGS) Deficiency : Diagnosis, Clinical Observations and Treatment

  • C. Bachmann
  • J. P. Colombo
  • K. Jaggi
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 153)


NAGS plays an important role in the short term regulation of urea synthesis. This enzyme has extensively been studied by Shigesada and Tatibana in rodents 1 ,2,3. We have purified human NAGS in order to find out what substrate concentrations should be used in an assay for human liver. The kinetic results including product inhibition studies are compatible with a rapid equilibrium random bibi mechanism. In the absence of arginine the Km are for Acetyl CoA 4.4 mmol/1, for glutamate 8.2 mmol/1. The Ki of N-acetylglutamate is at 0.5 mmol/1. Arginine approximately triples the activity (half maximum activation at about 30 µmol/1), and appears to lower the Km of acetyl CoA, but not of glutamate4.


Orotic Acid Urea Synthesis Half Maximum Activation Profuse Sweating Short Term Regulation 
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.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    K. Shigesada and M. Tabibana, J. Biol. Chem. 246: 5588 (1971).PubMedGoogle Scholar
  2. 2.
    K. Shigesada and M. Tatibana, BBRC 44: 1117 (1971).PubMedGoogle Scholar
  3. 3.
    C. Uchiyama, M. Mori and M. Tatibana, J. Biochem. 89: 1777 (1981).PubMedGoogle Scholar
  4. 4.
    C. Bachmann, St. Krähenbühl and J. P. Colombo (in preparation).Google Scholar
  5. 5.
    J. P. Colombo, St. Krähenbühl, C. Bachmann and P. Aeberhard, (submitted for publication).Google Scholar
  6. 6.
    M. C. Batshaw and S. W. Brusilow, J. Pediat. 97: 893 (1980).PubMedCrossRefGoogle Scholar
  7. 7.
    J. Rivas, A. Reglero and S. Grisolia, in “The Urea Cycle”, S. Grisolia, R. Baguena, F. Mayor, eds. Wiley, New York (1976).Google Scholar
  8. 8.
    R. Brown, R. Manning, M. Delp and S. Grisolia, Lancet 1: 591 (1958).CrossRefGoogle Scholar
  9. 9.
    S. Kim, W. U. Pain and P. P. Cohen, Proc. Nat. Acad. Sci. (USA) 69:3530 (1972.)Google Scholar

Copyright information

© Springer Science+Business Media New York 1982

Authors and Affiliations

  • C. Bachmann
    • 1
    • 2
  • J. P. Colombo
    • 1
    • 2
  • K. Jaggi
    • 1
    • 2
  1. 1.Dept. of Clinical ChemistryInselspital University of BerneSwitzerland
  2. 2.Children’s Hospital LucerneSwitzerland

Personalised recommendations