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Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase ? (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 ? gene (POLG1) revealed four heterozygous substitutions, two of which have been identified in cases of Alpers-Huttenlocher disease.

SUBMITTER: McFarland R 

PROVIDER: S-EPMC3028092 | biostudies-literature | 2009

REPOSITORIES: biostudies-literature

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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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