Rare disease
Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase 
(POLG1)
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:
Robert McFarland, 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 
gene (POLG1) revealed four heterozygous substitutions, two of which have been identified in cases of Alpers–Huttenlocher disease.
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