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Resistance of Erythrocyte Adenine Phosphoribosyltransferase in the Lesch-Nyhan Syndrome to Destabilization to Heat by Hypoxanthine

  • P. Bashkin
  • O. Sperling
  • R. Schmidt
  • A. Szeinberg
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 41A)

Abstract

The Lesch-Nyhan Syndrome (LNS) is a rare x-linked neurological disease of children characterized by choreoathetosis, spasticity, mental retardation and compulsive self mutilation accompanied by excessive purine production and hyperuricemia (1). The virtually complete deficiency of activity of a purine salvage enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGPRT) (EC 2.4.2.8.) (2), due to structural gene mutation (3,4) has been shown to be the basic abnormality in this disease. In erythrocytes of LNS patients, HGPRT deficiency has been found to be associated with increased activity and relative thermal stability of adenine phosphoribosyltransferase (APRT) (EC 2.4.2.7.) (5,6) an autosomally determined enzyme (7).

Keywords

Thermal Inactivation Adenine Phosphoribosyltransferase Basic Abnormality Relative Thermal Stability HGPRT Activity 
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

© Plenum Press, New York 1974

Authors and Affiliations

  • P. Bashkin
    • 1
    • 2
    • 3
  • O. Sperling
    • 1
    • 2
    • 3
  • R. Schmidt
    • 1
    • 2
    • 3
  • A. Szeinberg
    • 1
    • 2
    • 3
  1. 1.Department of Chemical PathologyTel-Aviv University Medical SchoolTel-HashomerIsrael
  2. 2.Rogoff-Wellcome Medical Research InstituteBeilinson HospitalPetah-TikvaIsrael
  3. 3.Rehabilitation Center for ChildrenAsaf-Harofeh Government HospitalZrifinIsrael

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