Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase gamma (POLG1).
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 18208989.
- Also identified by DOI 10.1136/adc.2007.122911.
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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 gamma gene (POLG1) revealed four heterozygous substitutions, two of which have been identified in cases of Alpers-Huttenlocher disease.
Medical subject headings
- DNA, Mitochondrial
- DNA-Directed DNA Polymerase
- Liver Failure, Acute
- Mutation
- Valproic Acid