Increased PP-ribose-P Synthetase Activity: A Genetic Abnormality Leading to Excessive Purine Production and Gout

  • Michael A. Becker
  • Laurence J. Meyer
  • Paul J. Kostel
  • J. Edwin Seegmiller
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 41A)


In recent years, progress has been made in identifying some of the specific biochemical and genetic factors responsible for the excessive purine synthesis which contributes to the hyperuricemia of a substantial proportion of individuals with gout. Deficiency of glucose-6-phosphatase in Type I glycogen storage disease leads to excessive purine synthesis (1) as do both partial and severe deficiencies of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) (2,3). Another hereditary abnormality of biochemistry has now been described in two families in which purine overproduction and clinical gout are associated with an increased, rather than a decreased, activity of a specific enzyme. The enzyme involved is PP-ribose-P synthetase (4,5).


Uric Acid Glycogen Storage Disease Synthetase Activity Increase Enzyme Activity Purine Synthesis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



5-phosphoribosyl 1-pyrophosphate


hypoxanthine-guanine phosphoribosyltransferase


adenine phosphoribosyltransferase


PP-ribose-P amidotransferase


formyl glycinamide ribonucleotide




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Copyright information

© Plenum Press, New York 1974

Authors and Affiliations

  • Michael A. Becker
    • 1
  • Laurence J. Meyer
    • 1
  • Paul J. Kostel
    • 1
  • J. Edwin Seegmiller
    • 1
  1. 1.Department of MedicineUniversity of California San DiegoLaJollaUSA

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