Article Text

Download PDFPDF
Mitochondrial neurogastrointestinal encephalopathy disease (MNGIE)
  1. Simon R Hammans MD1,2
  1. 1 Wessex Neurological Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK
  2. 2 Department of Neurology, St Richards Hospital, Chichester, West Sussex, UK
  1. Correspondence to Simon R Hammans, Wessex Neurological Centre, Southampton General Hospital, Southampton, SO16 6YD UK;simon.hammans{at}nhs.net

Abstract

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 Altmetric.com

Footnotes

  • Acknowledgements The author would like to thank the patient and their family for allowing publication of the figures.

  • Contributors Written by SRH.

  • Funding The author has not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Not required.

  • Provenance and peer review Commissioned; externally peer reviewed by Rhys Thomas, Newcastle-upon-Tyne, UK.

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