Skip to main content
SpringerLink
Log in
Book cover

Purine and Pyrimidine Metabolism in Man VI pp 185–188Cite as

Purine Nucleotide Restoration in HPRT- Cells

  • Chapter

  • 150 Accesses

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 253A))

Abstract

Lesch-Nyhan syndrome is caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) (1, 2). This enzyme catalyzes the conversion of the purine bases hypoxanthine and guanine to their respective 5′ribo-nucleotides. It is reasonable to assume that a deficiency of HPRT would cause a decrease in the cellular concentrations of purine nucleotides, although such a decrease has not been demonstrated in nucleated HPRT cells.

This is a preview of subscription content, log in via an institution.

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   84.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD   109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. M. Lesch and W. L. Nyhan, A familial disorder of uric acid metabolism and central nervous system function Am. J. Med. 36: 561 (1964)

    Article  PubMed  CAS  Google Scholar 

  2. J. E. Seegmiller, F. M. Rosenbloom, and W. N. Kelley, Enzyme deficit associated with a sex-linked human neurological disorder and excessive purine synthesis, Science 155: 1682 (1967)

    Article  PubMed  CAS  Google Scholar 

  3. R. W. E. Watts, R. O. McKeran, E. Brown, T. M. Andrews, and M. I. Griffiths, Clinical and biochemical studies on the treatment of Lesch-Nyhan syndrome, Arch. Dis. Child. 49: 693 (1974)

    Article  PubMed  CAS  Google Scholar 

  4. B. Bakay, E. Nissinen, and L. Sweetman, Analysis of radioactive and nonradioactive purine bases, nucleosides, and nucleotides by high-speed chromatography on a single column, Anal. Biochem. 86: 65 (1978)

    Article  PubMed  CAS  Google Scholar 

  5. T. Page, B. Bakay, E. Nissinen, and W.L. Nyhan, Hypoxanthine-guanine phosphoribosyltransferase variants: correlation of clinical phenotype with enzyme activity, J. Inher. Metab. Dis. 4: 203 (1981)

    Article  PubMed  CAS  Google Scholar 

  6. Y. Suzuki, 5-Amino-l-P-ribofuranosyl-4-imidazolecarboxamide ribonucleotide production by alkaline degradation from inosine, Chem. Let. 1: 547 (1973)

    Article  Google Scholar 

  7. W. T. Mueller, and S. J. Benkovic, On the purification and mechanism of action of 5-amino-4-imidazole carboxamide ribotide transformylase from chicken liver, Biochemistry 20: 337 (1981)

    Article  PubMed  CAS  Google Scholar 

  8. P. S. Newcombe, M. Lapes, C. Thomsen, and E. Y. Wright, Urinary excretion of 5-amino-4-imidazole carboxamide in X-linked primary hyperuricemia, Clin. Res. 15: 45 (1967)

    Google Scholar 

  9. P. L. McGeer, E. G. McGeer, and M. C. Griffin, Excretion of 5-amino-4-imidazole carboxamide in human urine, Can. J. Biochem. Physiol. 39: 591 (1961)

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pediatrics, M-009, University of California, San Diego, La Jolla, CA, 92093, USA

    Theodore Page

Authors
  1. Theodore Page
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Mikanagi Gotanda Hospital, Tokyo, Japan

    Kiyonobu Mikanagi

  2. Tokyo Women’s Medical College, Tokyo, Japan

    Kusuki Nishioka

  3. University of Michigan Medical Center, Ann Arbor, Michigan, USA

    William N. Kelley

Rights and permissions

Reprints and permissions

Copyright information

© 1989 Plenum Press, New York

About this chapter

Cite this chapter

Page, T. (1989). Purine Nucleotide Restoration in HPRT- Cells. In: Mikanagi, K., Nishioka, K., Kelley, W.N. (eds) Purine and Pyrimidine Metabolism in Man VI. Advances in Experimental Medicine and Biology, vol 253A. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-5673-8_30

Download citation

  • DOI: https://doi.org/10.1007/978-1-4684-5673-8_30

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-1-4684-5675-2

  • Online ISBN: 978-1-4684-5673-8

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics

Search

Navigation