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Case report |
(POLG1)
1 Newcastle upon Tyne NHS Hospitals Trust, Newcastle upon Tyne, UK
2 Newcastle University, Newcastle upon Tyne, UK
3 Birmingham Childrens Hospital, Birmingham, UK
Correspondence to:
Dr Robert McFarland, Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, 4th Floor, The Medical School, Framlington Place, Newcastle University, Newcastle NE2 4HH, UK; robert.mcfarland{at}ncl.ac.uk
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
gene (POLG1) revealed four heterozygous substitutions, two of which have been identified in cases of Alpers-Huttenlocher disease.
This article has been cited by other articles:
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H. Bauchner Atoms Arch. Dis. Child., April 1, 2008; 93(4): 1 - 1. [Full Text] [PDF] |
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