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Chemiluminescent Assays in the Study of Purine Metabolism

  • A. Giacomello
  • C. Salerno
  • P. Cardelli
  • M. C. Santulli
  • A. Rossi
  • R. Strom
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 253A)

Abstract

The discovery that in cells from patients with hypoxanthine guanine phosphoribosyltransferase (HGPRT) deficiency purine overproduction is associated with an elevated intracellular concentration of phosphoribosylpyro-phosphate (PRPP) (1) has led to a reevaluation of the importance of this compound in the regulation of purine biosynthesis de novo. The work which flowed from this discovery led to the identification of an inherited super-activity of PRPP synthetase in over a dozen families in which affected individuals showed gout and/or uric acid overproduction (2). However to date HGPRT deficiency and increased activity of PRPP synthetase are the only two well documented enzyme defects of purine synthesis and reutilization identified among hyperuricemic patients. These genetic aberrations account for less 10% of all hyperuricemic patients who overproduce uric acid.

Keywords

Uric Acid Purine Base Purine Synthesis Purine Biosynthesis Hypoxanthine Guanine Phosphoribosyltransferase 
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.

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Copyright information

© Plenum Press, New York 1989

Authors and Affiliations

  • A. Giacomello
    • 1
    • 2
  • C. Salerno
    • 1
    • 2
  • P. Cardelli
    • 1
    • 2
  • M. C. Santulli
    • 1
    • 2
  • A. Rossi
    • 1
    • 2
  • R. Strom
    • 1
    • 2
  1. 1.Laboratory of Clinical and Biochemical AnalysisUniversity of ChietiItaly
  2. 2.Department of Human BiopathologyUniversity of RomeItaly

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