Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1)
- R McFarland1,2,
- G Hudson2,
- R W Taylor2,
- S H Green3,
- S Hodges1,
- P J McKiernan3,
- P F Chinnery1,2,
- V Ramesh1
- 1Newcastle upon Tyne NHS Hospitals Trust, Newcastle upon Tyne, UK
- 2Newcastle University, Newcastle upon Tyne, UK
- 3Birmingham Children’s Hospital, Birmingham, UK
- Dr Robert McFarland, Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, 4th Floor, The Medical School, Framlington Place, Newcastle University, Newcastle NE2 4HH, UK;
- Accepted 26 September 2007
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.
Competing interests: None.