rss
BMJ Case Reports 2009; doi:10.1136/bcr.12.2008.1303
  • Rare disease

Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1)

  1. R McFarland,
  2. G Hudson2,
  3. R W Taylor2,
  4. S H Green3,
  5. S Hodges1,
  6. P J McKiernan3,
  7. P F Chinnery1,2,
  8. V Ramesh1
  1. 1
    Newcastle upon Tyne NHS Hospitals Trust, Newcastle upon Tyne, UK
  2. 2
    Newcastle University, Newcastle upon Tyne, UK
  3. 3
    Birmingham Children’s Hospital, Birmingham, UK
  1. Robert McFarland, robert.mcfarland{at}ncl.ac.uk
  • Published 10 May 2009

Summary

We report the case of a 2-year-old boy with seizures who developed hepatic failure shortly after commencing sodium valproate. Unexpectedly, liver function returned to normal on stopping the drug. Sequencing of the mitochondrial polymerase γ gene (POLG1) revealed four heterozygous substitutions, two of which have been identified in cases of Alpers–Huttenlocher disease.

Footnotes

  • Competing interests: none.

This Article

  1. Summary
  2. Full text

Responses

  1. Submit a response
  2. No responses published

Register for free content

The full text of all Editor's Choice articles and summaries of every article are free without registration

The full text of Images in ... articles are free to registered users

Only fellows can access the full text of case reports (apart from Editor's Choice) - become a fellow today, or encourage your institution to, so that together we can grow and develop this resource

Don't forget to sign up for content alerts so you keep up to date with all the case reports as they are published, and let us know what you think by commenting on the Editor's blog