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

Lookup NU author(s): Professor Bobby McFarlandORCiD, Professor Gavin Hudson, Professor Robert Taylor, Dr Stephen Hodges, Professor Patrick Chinnery, Dr Vankateswara Ramesh



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.

Publication metadata

Author(s): McFarland R, Hudson G, Taylor RW, Green SH, Hodges S, McKiernan PJ, Chinnery PF, Ramesh V

Publication type: Article

Publication status: Published

Journal: Archives of Disease in Childhood

Year: 2008

Volume: 93

Issue: 2

Pages: 151-153

Date deposited: 08/06/2010

ISSN (print): 0003-9888

ISSN (electronic): 1468-2044

Publisher: BMJ Group


DOI: 10.1136/adc.2007.122911

PubMed id: 18208989


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Funder referenceFunder name
G108/539Medical Research Council