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Clinical and Biochemical Correlates of A New HPRT Mutation

  • H. E. Gruber
  • M. Vuchinich
  • T. A. Marlow
  • M. M. Plent
  • R. C. Willis
  • J. E. Seegmiller
  • J. Bartley
  • J. W. Hanson
  • H. Zellweger
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 165)

Abstract

In the biochemical analysis of patients with Lesch-Nyhan disease the activity of HPRT found in cell lysates does not always correlate with HPRT activity in the intact cell (1–3). Neither analysis consistently predicts the degree of neurologic impairment in the patient (4,5).

Keywords

Uric Acid Cerebral Palsy Intact Cell Serum Uric Acid Erythrocyte Lysate 
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.
    Holland, M. J. C., A. M. DiLorenzo, J. Dancis, M. E. Balis, T. F. Yu, and R. P. Cox. Hypoxanthine phosphoribosyltransferase activity in intact fibroblasts from patients with X-linked hyperuricemia. J. Clin. Invest. 57: 1600–1605, 1976.PubMedCrossRefGoogle Scholar
  2. 2.
    Dancis, J., L. C. Yip, R. P. Cox, S. Piomelli and M. E. Balis. Disparate enzyme activity in erythrocytes and leukocytes. J. Clin. Invest. 52: 2068–2074, 1973.PubMedCrossRefGoogle Scholar
  3. 3.
    Emerson, B. T., and L. Thompson. The spectrum of hypoxanthineguanine phosphoribosyltransferase deficiency. Quart. J. Med. 42: 423–440, 1973.Google Scholar
  4. 4.
    Uitendaal, M. P., C.H.M.M., deBruyn, T. L. Oei, and P. Hosli. Molecular and tissue-specific heterogeneity in HPRT deficiency. Biochem. Genetics 16: 1187–1202, 1978.CrossRefGoogle Scholar
  5. 5.
    Page, T., B. Bakay, E. Nissinen and W. Nyhan. Hypoxanthine guanine phosphoribosyltransferase variants: Correlation of clinical phenotype with enzyme activity. J. Inherit. Metab. Dis. 4: 203–206, 1981.Google Scholar

Copyright information

© Plenum Press, New York 1984

Authors and Affiliations

  • H. E. Gruber
    • 1
  • M. Vuchinich
    • 1
  • T. A. Marlow
    • 1
  • M. M. Plent
    • 1
  • R. C. Willis
    • 1
  • J. E. Seegmiller
    • 1
  • J. Bartley
    • 2
  • J. W. Hanson
    • 2
  • H. Zellweger
    • 2
  1. 1.Dept. of MedicineUniversity of California San DiegoLa JollaUSA
  2. 2.Division of Medical GeneticsUniversity of IowaIowa CityUSA

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