Advertisement

Unstable HPRTase in Subjects with Abnormal Urinary Oxypurine Excretion

  • M. E. Balis
  • L. C. Yip
  • T. F. Yü
  • A. B. Gutman
  • R. Cox
  • J. Dancis
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 41A)

Abstract

Several genetic defects have been recognized which have presented different levels of residual IMP pyrophosphorylase (HPRTase) activity and concomitant modifications of the clinical manifestations. The most extreme is Lesch-Nyhan disease with little or no detectable enzyme in the red cells and severe neurological damage.1 If the enzyme deficiency is less complete, there may be only overproduction of uric acid and gout.

Keywords

Double Diffusion Gout Patient Public Health Service Research Detectable Enzyme Concomitant Modification 
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.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. 1.
    Lesch, M. and Nyhan, W.L. (1964) Amer. J. Med. 36, 561–570.PubMedCrossRefGoogle Scholar
  2. 2.
    Rubin, Charles S., Dancis, J., Yip, L.C.. Nowinski, R.C. and Balis, M.E. (1971) Proc. Nat. Acad. Sci. 68, 1461–1464.PubMedCrossRefGoogle Scholar
  3. 3.
    Yu, T-F., Balis, M.E,, Krenitsy, T.A., Dancis, J., Silvers, D.N., Elion, G.B. and Gutman, A.B. (1972) Ann. Intern. Med. 76, 255–264.PubMedGoogle Scholar
  4. 4.
    Smith, J.L., Omura, G.A., Krakoff, I.H. and Balis, M.E. (1971) Proc. Soc. Exp. Biol. and Med. 136, 1299–1303.Google Scholar
  5. 5.
    Dancis, J., Berman, P.H., Jansen, V. and Balis, M.E. (1968) Life Sciences 7, Part II, 587–91.Google Scholar
  6. 6.
    Dancis, J., Yip, L.C., Cox, R.P., Piomelli, S. and Balis, M.E. J. Clin. Invest. (In Press).Google Scholar

Copyright information

© Plenum Press, New York 1974

Authors and Affiliations

  • M. E. Balis
    • 1
  • L. C. Yip
    • 1
  • T. F. Yü
    • 1
  • A. B. Gutman
    • 1
  • R. Cox
    • 1
  • J. Dancis
    • 1
  1. 1.Sloan-Kettering Memorial Cancer Center, Mt. Sinai School of Medicine of the City University of New YorkNew York University School of MedicineNew YorkUSA

Personalised recommendations