Study of Immunoreactive Material in Patients with Deficient HPRT Activity

  • B. Bakay
  • M. Graf
  • S. Carey
  • W. L. Nyhan
Part of the Advances in Experimental Medicine and Biology book series


Patients with severe deficiency of hypoxanthine phosphoribosyl transferase (HPRT, E.C.: activity, who usually have the Lesch-Nyhan syndrome are phenotypically distinct from the patients with partially active enzyme who have renal stone disease or gout (1,2,3). There is a number of possible genetic mechanisms which could lead to the deficiency of HPRT in various patients. In most cases the molecular abnormality appears to be a structural gene mutation which results in the synthesis of a catalytically inefficient enzyme protein with 0.1% to 50% of normal HPRT activity. However, when enzymatic activity is undetectable, it is not known whether a completely inactive enzyme protein is synthesized,or no protein is synthesized. To distinguish between these two possibilities, the general approach has been to use an antibody produced against normal enzyme and test the cell extracts of enzyme deficient individuals for cross-reacting material (CRM). Earlier investigators concluded that erythrocytes from patients with the Lesch-Nyhan syndrome contained normal amounts of catalytically incompetent HPRT protein which crossreacted with antibodies prepared against HPRT from hemolysates of normal individuals (4 – 6). However, we were unable to confirm these findings (7) and therefore studied this problem further.


Crude Enzyme Hypoxanthine Phosphoribosyl Transferase Normal Enzyme Immunoreactive Material Partial Deficiency 
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Copyright information

© Plenum Press, New York 1977

Authors and Affiliations

  • B. Bakay
    • 1
  • M. Graf
    • 1
  • S. Carey
    • 1
  • W. L. Nyhan
    • 1
  1. 1.Department of PediatricsUniversity of California, San DiegoLa JollaUSA

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