Article

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

Newcastle upon Tyne NHS Hospitals Trust, Newcastle upon Tyne, UK.
Archives of Disease in Childhood (impact factor: 2.88). 03/2008; 93(2):151-3. DOI:10.1136/adc.2007.122911 pp.151-3
Source: PubMed

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.

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Keywords

2-year-old boy
 
Alpers-Huttenlocher disease
 
cases
 
commencing sodium valproate
 
liver function
 
mitochondrial polymerase gamma gene