Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

FEBS Lett. 2007 Jul 24;581(18):3410-4. doi: 10.1016/j.febslet.2007.06.042. Epub 2007 Jun 27.


Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disease due to ECGF1 gene mutations causing thymidine phosphorylase (TP) deficiency. Analysis of post-mortem samples of five MNGIE patients and two controls, revealed TP activity in all control tissues, but not in MNGIE samples. Converse to TP activity, thymidine and deoxyuridine were absent in control samples, but present in all tissues of MNGIE patients. Concentrations of both nucleosides in the tissues were generally higher than those observed in plasma of MNGIE patients. Our observations indicate that in the absence of TP activity, tissues accumulate nucleosides, which are excreted into plasma.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Autopsy
  • Biopsy
  • Deoxyuridine / analogs & derivatives
  • Deoxyuridine / metabolism*
  • Female
  • Gastrointestinal Diseases / genetics
  • Gastrointestinal Diseases / metabolism*
  • Gastrointestinal Diseases / pathology
  • Humans
  • Infant
  • Male
  • Mitochondrial Encephalomyopathies / genetics
  • Mitochondrial Encephalomyopathies / metabolism*
  • Mitochondrial Encephalomyopathies / pathology
  • Oxygen / metabolism
  • Thymidine / metabolism*
  • Thymidine Phosphorylase / metabolism


  • Thymidine Phosphorylase
  • Oxygen
  • Thymidine
  • Deoxyuridine