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Rare disease
Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1)
  1. R McFarland,
  2. G Hudson2,
  3. R W Taylor2,
  4. S H Green3,
  5. S Hodges1,
  6. P J McKiernan3,
  7. P F Chinnery1,2,
  8. V Ramesh1
  1. 1
    Newcastle upon Tyne NHS Hospitals Trust, Newcastle upon Tyne, UK
  2. 2
    Newcastle University, Newcastle upon Tyne, UK
  3. 3
    Birmingham Children’s Hospital, Birmingham, UK
  1. Robert McFarland, robert.mcfarland{at}ncl.ac.uk

Summary

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.

https://doi.org/10.1136/bcr.12.2008.1303

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    Footnotes

    • Competing interests: none.