Literature DB >> 18208989

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

R McFarland1, G Hudson, R W Taylor, S H Green, S Hodges, P J McKiernan, P F Chinnery, V Ramesh.   

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 gamma gene (POLG1) revealed four heterozygous substitutions, two of which have been identified in cases of Alpers-Huttenlocher disease.

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Year:  2008        PMID： 18208989     DOI： 10.1136/adc.2007.122911

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  16 in total

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2.  Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication.

Authors:  Rajesh Kasiviswanathan; Matthew J Longley; Sherine S L Chan; William C Copeland
Journal:  J Biol Chem       Date:  2009-05-28       Impact factor: 5.157

3.  Synergistic Effects of the in cis T251I and P587L Mitochondrial DNA Polymerase γ Disease Mutations.

Authors:  Karen L DeBalsi; Matthew J Longley; Kirsten E Hoff; William C Copeland
Journal:  J Biol Chem       Date:  2017-02-02       Impact factor: 5.157

4.  Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome.

Authors:  Karin Naess; Michela Barbaro; Helene Bruhn; Rolf Wibom; Inger Nennesmo; Ulrika von Döbeln; Nils-Göran Larsson; Antal Nemeth; Nicole Lesko
Journal:  JIMD Rep       Date:  2011-10-20

Review 5.  Recent advances in liver transplantation for metabolic disease.

Authors:  P J Mc Kiernan
Journal:  J Inherit Metab Dis       Date:  2017-02-06       Impact factor: 4.982

Review 6.  Alpers-Huttenlocher syndrome.

Authors:  Russell P Saneto; Bruce H Cohen; William C Copeland; Robert K Naviaux
Journal:  Pediatr Neurol       Date:  2013-03       Impact factor: 3.372

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Journal:  J Inherit Metab Dis       Date:  2013-10-24       Impact factor: 4.982

8.  Valproic acid-associated acute liver failure in children: case report and analysis of liver transplantation outcomes in the United States.

Authors:  Ayse L Mindikoglu; Dale King; Laurence S Magder; John A Ozolek; George V Mazariegos; Benjamin L Shneider
Journal:  J Pediatr       Date:  2010-12-16       Impact factor: 4.406

9.  Standardization of nomenclature and causality assessment in drug-induced liver injury: summary of a clinical research workshop.

Authors:  Robert J Fontana; Leonard B Seeff; Raúl J Andrade; Einar Björnsson; Christopher P Day; Jose Serrano; Jay H Hoofnagle
Journal:  Hepatology       Date:  2010-08       Impact factor: 17.425

Review 10.  Gene polymorphisms and their role in epilepsy treatment and prognosis.

Authors:  Ortrud K Steinlein
Journal:  Naunyn Schmiedebergs Arch Pharmacol       Date:  2010-06-16       Impact factor: 3.000
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