Immunological Studies of Hypoxanthine-Guanine Phosphoribosyltransferase in Lesch-Nyhan Syndrome

  • M. M. Müller
  • H. Stemberger
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 41A)


The clinical picture of the Lesch-Nyhan syndrome shows besides massive hyperuricemia mental retardation and spasticity (later choreoathetosis and self mutilation in the behavior) (1). The disturbance of purine metabolism is based on the deficiency of hypoxanthine-guanine phosphoribosyltransferase activity (HG-PRT) (2).


Enzyme Protein Thermal Inactivation Immunological Study Purine Metabolism Complete Identity 
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  1. (1).
    Lesch M., Nyhan W.L.: Amer. J. Med. 36, 561 (1964)PubMedCrossRefGoogle Scholar
  2. (2).
    Seegmiller J.E., Rosenbloom F.M., Kelley W.N.: Science 155, 1682 (1967)PubMedCrossRefGoogle Scholar
  3. (3).
    Kelley W,N., Rosenbloom F.M., Henderson J.F., Seegmiller J.E.: Proc. Nat. Acad. Sci, USA 57, 1735 (1967)CrossRefGoogle Scholar
  4. (4).
    Müller M.M., Dobrovits H., Stemberger H.: Z. Klin. Chem. Klin. Biochem. 10, 535 (1972)Google Scholar
  5. (5).
    Sols A.: Nature (London) 160, 89 (1947)CrossRefGoogle Scholar
  6. (6).
    Rubin C.S., Balis M.E., Piomelli S., Berman P.H., Dancis J.: J. Lab. Clin. Med. 74, 732 (1969)PubMedGoogle Scholar

Copyright information

© Plenum Press, New York 1974

Authors and Affiliations

  • M. M. Müller
    • 1
  • H. Stemberger
    • 1
  1. 1.Departments of Medical Chemistry and HygieneUniversity of ViennaAustria

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