Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase ? (POLG1).
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ABSTRACT:
SUBMITTER: McFarland R
PROVIDER: S-EPMC3028092 | biostudies-literature | 2009
REPOSITORIES: biostudies-literature
Publications
Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1).
McFarland R R Hudson G G Taylor R W RW Green S H SH Hodges S S McKiernan P J PJ Chinnery P F PF Ramesh V V
BMJ case reports 20090510
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. ...[more]
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