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Archives of Disease in Childhood 2008;93:151-153; doi:10.1136/adc.2007.122911
Copyright © 2008 BMJ Publishing Group Ltd & Royal College of Paediatrics and Child Health.

Case report

Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase {gamma} (POLG1)

R McFarland1,2, G Hudson2, R W Taylor2, S H Green3, S Hodges1, P J McKiernan3, P F Chinnery1,2, V Ramesh1

1 Newcastle upon Tyne NHS Hospitals Trust, Newcastle upon Tyne, UK
2 Newcastle University, Newcastle upon Tyne, UK
3 Birmingham Children’s Hospital, Birmingham, UK

Correspondence to:
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; robert.mcfarland{at}ncl.ac.uk

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 {gamma} gene (POLG1) revealed four heterozygous substitutions, two of which have been identified in cases of Alpers-Huttenlocher disease.


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