Mutant Phosphoribosylpyrophosphate Synthetase in Two Gouty Siblings with Excessive Purine Production

  • O. Sperling
  • S. Persky-Brosh
  • P. Boer
  • A. de Vries
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 41A)


PRPP is a substrate for the enzyme glutamine-PRPP amidotransferase catalyzing the first rate-limiting step of purine nucleotide synthesis de novo (1). Evidence has been obtained that PRPP is an important regulator of this pathway (2–4). A possible role of increased PRPP availability in the enhancement of de novo purine synthesis in primary metabolic gout, a purine overproduction disease, has been suggested by the demonstration of an increased PRPP turnover in gouty subjects (5) and of an increased rate of PRPP formation in erythrocytes and cultured fibroblasts from such patients (6–8).


Uric Acid Serum Uric Acid Mutant Enzyme Purine Synthesis Uric Acid Excretion 
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Copyright information

© Plenum Press, New York 1974

Authors and Affiliations

  • O. Sperling
    • 1
  • S. Persky-Brosh
    • 1
  • P. Boer
    • 1
  • A. de Vries
    • 1
  1. 1.Rogoff-Wellcome Medical Research Institute and the Metabolic Unit of Department of Medicine DTel-Aviv University Medical School, Beilinson HospitalPetah TikvaIsrael

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