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Adenine Phosphoribosyltransferase Deficiency in a Female with Gout

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

Abstract

A moderate deficiency of adenine phosphoribosyltransferase (APRTase) has been described in two families (1,2). In the first of these families the deficiency of APRTase extended to four members in three generations. However in these cases, there was no evidence of abnormal urate metabolism. The second report of a moderate APRTase deficiency involved a patient with a long history of gouty arthritis. In this patient, the incorporation of 14c-glycine into urinary uric acid and the urinary excretion of uric acid were normal, and the authors concluded that the moderate deficiency of APRTase was not associated with a derangement of de novo purine synthesis. A functionally similar enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGPRTase), also involved in purine metabolism, has been reported to be only partially active in cases of gout in which the subjects produce excessive quantities of uric acid (3).

Keywords

Uric Acid Gouty Arthritis Purine Metabolism Urate Concentration Urinary 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

  1. 1.
    KELLEY, W. N., Levy, R. I., ROSENBLOOM, F. M. HENDERSON, J. F., and SEEGMILLER, J. E. (1968). Adenine phosphoribosyltransferase deficiency: A previously undescribed genetic defect in man. J. Clin. Invest. 47: 2281–2289.PubMedCrossRefGoogle Scholar
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    KELLEY, W. N., FOX, I. H., and WYNGAARDEN, J. B. (1970). Further evaluation of adenine phosphoribosyltransferase deficiency in man. Occurrence in a patient with gout. Clin. Res. 18, 53.Google Scholar
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    KELLEY, W. N., ROSENBLOOM, F. M., HENDERSON, J. F., and SEEGMILLER, J. E. A specific enzyme defect in gout associated with overproduction of uric acid. Proc. Natl. Acad. Sci. U. S. A. 57, 1735, (1967).PubMedCrossRefGoogle Scholar
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Copyright information

© Plenum Press, New York 1974

Authors and Affiliations

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

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