Erythrocyte PRPP Concentrations in Heterozygotes for HGPRTase Deficiency

  • R. B. Gordon
  • L. Thompson
  • B. T. Emmerson
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 41A)


In the last few years, phosphoribosylpyrophosphate (PRPP) has been viewed as a most important intermediate metabolite and studies have indicated that its concentration and rate of synthesis may play a critical role in the regulation of purine biosynthesis de novo. Hershko et al (1) found increased in vitro formation of PRPP in the erythrocytes of some gouty subjects. They further suggested that the increase in the rate of purine uptake found in these patients was attributable to enhanced PRPP formation. However, other workers (2, 3) failed to find elevated PRPP levels in erythrocytes of patients with gout who had normal hypoxanthineguanine phosphoribosyltransferase (HGPRTase) activity in their erythrocytes. On the other hand, patients with either severe or moderate degrees of deficiency of the enzyme HGPRTase regularly demonstrated elevated erythrocyte PRPP concentrations. It was suggested (2) that in HGPRTase deficient subjects, the elevated erythrocyte PRPP levels reflected the cells diminished utilization of this compound by the HGPRTase catalysed reaction.


Erythrocyte Lysate Purine Biosynthesis Moderate Deficiency Adenine Phosphoribosyltransferases Serum Urate Concentration 
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Copyright information

© Plenum Press, New York 1974

Authors and Affiliations

  • R. B. Gordon
    • 1
  • L. Thompson
    • 1
  • B. T. Emmerson
    • 1
  1. 1.Department of Medicine, Princess Alexandra HospitalUniversity of Queensland, BrisbaneAustralia

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