Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE)

J Inherit Metab Dis. 2002 Nov;25(7):603-4. doi: 10.1023/a:1022007827133.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Biomarkers / urine
  • DNA, Mitochondrial / genetics
  • DNA, Mitochondrial / metabolism
  • Deoxyuridine / urine*
  • Female
  • Humans
  • Mitochondrial Encephalomyopathies / genetics
  • Mitochondrial Encephalomyopathies / metabolism
  • Mutation
  • Thymidine Phosphorylase / deficiency*

Substances

  • Biomarkers
  • DNA, Mitochondrial
  • Thymidine Phosphorylase
  • Deoxyuridine