Skip to main content
SpringerLink
Log in

Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE)

  • Published:
Journal of Inherited Metabolic Disease

Abstract

We report the presence of the unusual nucleoside deoxyuridine in the urine of a patient with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) (MIM 603041) due to thymidine phosphorylase (TP:EC 2.4.2.4) deficiency. Thymidine, uracil and thymine were also elevated. We propose that inhibition of thymidylate synthetase by TMP leads to the accumulation of dUMP which may be degraded to deoxyuridine or metabolised to dUTP. Incorporation of dUTP into mtDNA may explain the multiple deletions characteristic of TP deficiency.

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

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

REFERENCES

  • Hirano M, Garcia-de-Yebenes J, Jones AC (1999) Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283: 689-692.

    Google Scholar 

  • Simmonds HA, Duley JA, Davies PM (1990) Analysis of purines and pyrimidines in blood, urine, and other physiological fluids. In Hommes FA, ed. Techniques in Diagnostic Human Biochemical Genetics. New York: Wiley-Liss, 397-424.

    Google Scholar 

  • Spinazzola A, Marit R, Nishino I, et al (2002) Altered thymidine metabolism due to defects of thymidine phosphorylase. J Biol Chem 277: 4128-4133.

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Purine Research Unit, Department of Chemical Pathology, Guy′s and St. Thomas′ Hospital, London

    L. D. Fairbanks, A. M. Marinaki, E. A. Carrey & J. A. Duley

  2. Wessex Neurological Centre, Southampton General Hospital, Southampton, UK

    S. R. Hammans

Authors
  1. L. D. Fairbanks
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. A. M. Marinaki
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. E. A. Carrey
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. S. R. Hammans
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. J. A. Duley
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Fairbanks, L.D., Marinaki, A.M., Carrey, E.A. et al. Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE). J Inherit Metab Dis 25, 603–604 (2002). https://doi.org/10.1023/A:1022007827133

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1023/A:1022007827133

Search

Navigation