Article Text

Download PDFPDF
Mitochondrial neurogastrointestinal encephalopathy disease (MNGIE)


Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a rare autosomal recessive condition. Deficiency of thymidine phosphorylase disrupts the nucleoside pool, with progressive secondary mitochondrial DNA damage. MNGIE is clinically diagnosable because of a distinctive tetrad of gastrointestinal dysmotility, progressive external ophthalmoplegia, demyelinating neuropathy and asymptomatic leucoencephalopathy. The diagnosis may be confirmed genetically or biochemically. Misdiagnosis is frequent, but early and accurate recognition allows the possibility of novel transplant therapies capable of rectifying the biochemical defects. Its management remains difficult in the face of progressive disability and the risks of treatment.

  • Mitochondrial disorders
  • neuropathy
  • genetics
  • metabolic disease

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Linked Articles

  • Editors’ commentary
    Phil E M Smith Geraint N Fuller

Other content recommended for you