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Hypoxanthine - Guanine Phosphoribosyl Transferase Deficiency. Our Experience

  • B. Amor
  • F. Delbarre
  • C. Auscher
  • A. de Gery
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 41A)

Abstract

Thirteen cases of total partial HGPRTase deficiency have been detected at the Rheumatology Clinic of Hopital Cochin (Paris) since Seegmiller, Rosenbloom and Kelley ( 1 ) described this enzymatic abnormality.

Keywords

Uric Acid Uric Acid Level Serum Uric Acid Level Autosomic Dominant Allele Tophaceous Gout 
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.
    SEEGMILLER JE, ROSENBLOOM FM, KELLEY WN. Enzyme defect associated with a sex linked humain neurological disorder and excessive purine synthesis. Science, 152: 1682–1684, 1967.CrossRefGoogle Scholar
  2. 2.
    ARNOLD WJ and KELLEY WN. Dietary–Induced Variation of Hypoxanthine–Guanine Phosphoribosyl Transferase activity in patients with Lesh-Nyhan syndrome. J. Clin. Invest., 52: 970–973, 1973.PubMedCrossRefGoogle Scholar
  3. 3.
    Sweetman L. and Nyhan WL. Further studies of the enzyme composition of mutant cell in X linked uric aciduria. Arch. Intern. Med., 130: 214–220, 1972.PubMedCrossRefGoogle Scholar
  4. 4.
    KELLEY WN, GREENE ML, ROSENBLOOM FM, HENDERSON JF and SEEGMILLER JE. Hypoxanthine–Guanine phosphoribosyl transferase deficiency in gout. Ann. Intern. Med., 70: 155–206, 1969PubMedGoogle Scholar

Copyright information

© Plenum Press, New York 1974

Authors and Affiliations

  • B. Amor
    • 1
  • F. Delbarre
    • 1
  • C. Auscher
    • 1
  • A. de Gery
    • 1
  1. 1.Centre de Recherches sur les maladies ostéoarticulairesU.5 INSERM — Hop. CochinParisFrance

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