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

Authors
  • McFarland, R
  • Hudson, G
  • Taylor, R W
  • Green, S H
  • Hodges, S
  • McKiernan, P J
  • Chinnery, P F
  • Ramesh, V
Type
Published Article
Journal
BMJ Case Reports
Publisher
BMJ
Publication Date
Jan 01, 2009
Volume
2009
Identifiers
DOI: 10.1136/bcr.12.2008.1303
PMID: 21686371
Source
Medline
License
Unknown

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.

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