Search

Your search keyword '"Taylor, R W"' showing total 1 results
Start Over Author "Taylor, R W" Topic mitochondrial dna Journal archives of disease in childhood
1 results on '"Taylor, R W"'

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

Author

McFarland, R., Hudson, G., Taylor, R. W., Green, S. H., Hodges, S., McKiernan, P. J., Chinnery, P. F., and Ramesh, V.

Subjects
MITOCHONDRIAL DNA, HEPATOTOXICOLOGY, POLYMERASE chain reaction, VALPROIC acid, DNA, ABDOMEN, LIVER failure, CLINICAL medicine, MEDICAL care
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. [ABSTRACT FROM AUTHOR]

Published
2008
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results