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

Abstract

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.

https://doi.org/10.1136/adc.2007.122911

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