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

McFarland R, Hudson G, Taylor RW, Green SH, Hodges S, McKiernan PJ, Chinnery PF, Ramesh V
Archives of disease in childhood (2008), Volume 93, Page 151
PubMed entry Publisher's site

Abstract:

We report the case of a 2-year-old boy with seizures who developed ...
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.

Polymerases:

Human Pol gamma A467T,Human Pol gamma Q879H,Human Pol gamma T885S,Human Pol gamma E1143G

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