Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency: Altered Kinetic Properties of a Specific Mutant Form of the Enzyme

  • J. A. McDonald
  • W. N. Kelley
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 41A)


The Lesch-Nyhan syndrome is a rare, X-linked genetic disease due to a functional absence of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT) (Seegmiller, Rosenbloom and Kelley, 1967). This enzyme catalyzes the transfer of the 5-phosphoribosyl moiety of 5-phosphoribosyl-l-pyrophosphate (PP-ribose-P) to the purine bases guanine and hypoxanthine to form the nucleotides inosinic acid and guanylic acid.


Mutant Enzyme Hill Plot Normal Enzyme HGPRT Activity Nyhan Syndrome 
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Copyright information

© Plenum Press, New York 1974

Authors and Affiliations

  • J. A. McDonald
    • 1
  • W. N. Kelley
    • 1
  1. 1.Department of MedicineDuke University Medical CenterDurhamUSA

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