Hypoxanthine-Guanine Phosphoribosyltransferase in Human Lymphoblastoid Cells: Confirmation of Four Structural Variants and Demonstration of a New Variant (HPRTAnn Arbor)

  • James M. Wilson
  • B. Wade Baugher
  • William N. Kelley
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 165)


An inherited deficiency of hypoxanthine-guanine phosphoribo-syltransferase (HPRT) has been described in two distinct clinical syndromes. A virtually complete deficiency of enzyme activity is associated with patients having the Lesch-Nyhan syndrome (1) while a partial deficiency of enzyme activity leads to hyperuricemia and an early onset of gout (2).


Lymphoblastoid Cell Line Enzyme Variant HPRT Gene Subunit Molecular Weight Distinct Clinical Syndrome 
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Copyright information

© Springer Science+Business Media New York 1984

Authors and Affiliations

  • James M. Wilson
    • 1
  • B. Wade Baugher
    • 1
  • William N. Kelley
    • 1
  1. 1.Departments of Internal Medicine and Biological ChemistryUniversity of Michigan Medical CenterAnn ArborUSA

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