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Complete Deficiency of Adenine Phosphoribosyltransferase: Report of a Family

  • K. J. Van Acker
  • H. A. Simmonds
  • J. S. Cameron
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Part of the Advances in Experimental Medicine and Biology book series

Abstract

The study of inborn errors of purine metabolism in man has led to a better understanding of the latter. Deficiencies of enzymes involved in the purine reutilization pathways mainly concern the hypoxanthine-guanine phosphoribosyltransferase (HGPRT), the clinical expression being the Lesch-Nyhan syndrome or eventually gout. Partial deficiency of adenine phosphoribosyltransferase (APRT), the enzyme catalyzing the transport of the ribosylphosphate moiety of phosphoribosylpyrophosphate (PRPP) to adenine with formation of AMP, has only rarely been described (2,3,5–9), Complete deficiency of this enzyme was reported in only one patient (2). We report here on two siblings with complete APRT deficiency: in the youngest child the deficiency was detected during an investigation for urolithiasis, in the older brother it was demonstrated on the occasion of the family study.

Keywords

Uric Acid None None Purine Metabolism Erythrocyte Lysate Plasma Uric Acid 
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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References

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Copyright information

© Plenum Press, New York 1977

Authors and Affiliations

  • K. J. Van Acker
    • 1
    • 2
  • H. A. Simmonds
    • 1
    • 2
  • J. S. Cameron
    • 1
    • 2
  1. 1.Department of PediatricsUniversity of AntwerpBelgium
  2. 2.Department of MedecineGuy’s Hospital Medical SchoolLondonUK

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