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BMJ Case Rep. 2009;2009. pii: bcr12.2008.1303. doi: 10.1136/bcr.12.2008.1303. Epub 2009 May 10.

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

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Newcastle upon Tyne NHS Hospitals Trust, Newcastle upon Tyne, 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 γ gene (POLG1) revealed four heterozygous substitutions, two of which have been identified in cases of Alpers-Huttenlocher disease.

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