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

McFarland, R.; Hudson, G.; Taylor, R. W.; Green, S. H.; Hodges, S.; McKiernan, P. J.; Chinnery, P. F.; Ramesh, V.
February 2008
Archives of Disease in Childhood;Feb2008, Vol. 93 Issue 2, p151
Academic Journal
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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