Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1). Issue 2 (21st January 2008)

• Record Type: Journal Article
• Authors: McFarland, R; Hudson, G; Taylor, R W; Green, S H; Hodges, S; McKiernan, P J; Chinnery, P F; Ramesh, V
• Is Part Of: Archives of disease in childhood. Volume 93:Issue 2(2008)
• Page Start: 151
• Page End: 153
• Publication Date: 2008-01-21
• Subjects: Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/adc.2007.122911
• Languages: English
• ISSNs: 0003-9888

Abstract

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.