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Adenine Phosphoribosyltransferase Deficiency: Report of a Second Family

  • I. H. Fox
  • W. N. Kelley
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 41A)

Abstract

Recent advances in the understanding of human purine metabolism have been stimulated by the discovery of specific inborn errors of this pathway in man. In particular, the demonstration of the deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) in the Lesch-Nyhan syndrome and in some patients with gout has contributed essential information on the regulation of purine biosynthesis de novo and on the critical role of this reutilization pathway in central nervous system function in man. The search for other disorders led to the description of a partial deficiency of adenine phosphoribosyltransferase (APRT) in four members in three generations of one family. Each of the subjects partially deficient in APRT exhibited a normal serum urate concentration and the propositus had a normal excretion of uric acid (Kelley, et al., 1968). We have investigated a second family partially deficient in APRT (Fox and Kelley, in press).

Keywords

Uric Acid Central Nervous System Function Purine Biosynthesis Partial Deficiency 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. Fox, I. H. and Kelley, W. N. 1972. Studies on the mechanism of fructose-induced hyperuricemia in man. Metabolism 21: 713–721.PubMedCrossRefGoogle Scholar
  2. Fox, I. H. and Kelley, W. N. 1972. Studies on the mechanism of fructose-induced hyperuricemia in man. Metabolism 21: 713–721.PubMedCrossRefGoogle Scholar
  3. Kelley, W. N., Levy, R. I., Rosenbloom, R. M., Henderson, J. F. and Seegmiller, J. E. 1968. Adenine phosphoribosyltransferase deficiency: A previously unrecognized genetic defect in man. J. Clin. Invest. 47: 2281–2289.PubMedCrossRefGoogle Scholar
  4. Schulman, J. D., Greene, M. L., Fujimoto, W. Y. and Seegmiller, J. E. 1971. Adenine therapy for Lesch-Nyhan syndrome. Ped. Res. 5: 77–82, 1971.CrossRefGoogle Scholar
  5. Thomas, C. B., Arnold, W. J. and Kelley, W. N. 1973. Human adenine phosphoribosyltransferase: Purification and properties. J. Biol. Chem. 248: 144–150.Google Scholar

Copyright information

© Plenum Press, New York 1974

Authors and Affiliations

  • I. H. Fox
    • 1
  • W. N. Kelley
    • 1
  1. 1.University of Toronto, Toronto, Canada and Duke University Medical CenterDurhamUSA

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