title: 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.
authors.affiliation: Newcastle upon Tyne NHS Hospitals Trust, Newcastle upon Tyne, UK.
authors.forename: R
authors.initials: R
authors.lastname: McFarland
authors.forename: G
authors.initials: G
authors.lastname: Hudson
authors.forename: R W
authors.initials: RW
authors.lastname: Taylor
authors.forename: S H
authors.initials: SH
authors.lastname: Green
authors.forename: S
authors.initials: S
authors.lastname: Hodges
authors.forename: P J
authors.initials: PJ
authors.lastname: McKiernan
authors.forename: P F
authors.initials: PF
authors.lastname: Chinnery
authors.forename: V
authors.initials: V
authors.lastname: Ramesh