Literature DB >> 21686371

Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (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 γ gene (POLG1) revealed four heterozygous substitutions, two of which have been identified in cases of Alpers-Huttenlocher disease.

Entities:  

Year:  2009        PMID： 21686371      PMCID： PMC3028092          DOI： 10.1136/bcr.12.2008.1303

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN： 1757-790X


  12 in total

1.  The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases.

Authors:  Charalampos Tzoulis; Bernt A Engelsen; Wenche Telstad; Jan Aasly; Massimo Zeviani; Synnøve Winterthun; Gianfrancesco Ferrari; Jan H Aarseth; Laurence A Bindoff
Journal:  Brain       Date:  2006-04-25       Impact factor: 13.501

2.  Valproate-induced liver failure in one of two siblings with Alpers disease.

Authors:  M J Schwabe; W B Dobyns; B Burke; D L Armstrong
Journal:  Pediatr Neurol       Date:  1997-05       Impact factor: 3.372

3.  Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders.

Authors:  Sherine S L Chan; Matthew J Longley; William C Copeland
Journal:  Hum Mol Genet       Date:  2006-11-06       Impact factor: 6.150

4.  Valproic acid-induced hepatopathy: nine new fatalities in Germany from 1994 to 2003.

Authors:  Stephan A Koenig; Deike Buesing; Elke Longin; Randi Oehring; Peter Häussermann; Gerhard Kluger; Friedemann Lindmayer; Ralf Hanusch; Ingrid Degen; Hans Kuhn; Kamrun Samii; Albrecht Jungck; Reinhard Brückner; Reinhild Seitz; Wolfgang Boxtermann; Yvonne Weber; Rolf Knapp; Hans Helmut Richard; Birgit Weidner; Johannes-Martin Kasper; Carl-Albrecht Haensch; Sabine Fitzek; Margarete Hartmann; Peter Borusiak; Andrea Müller-Deile; Volker Degenhardt; Georg-Christoph Korenke; Thomas Hoppen; Ulrich Specht; Thorsten Gerstner
Journal:  Epilepsia       Date:  2006-12       Impact factor: 5.864

Review 5.  Biochemical assays of respiratory chain complex activity.

Authors:  Denise M Kirby; David R Thorburn; Douglass M Turnbull; Robert W Taylor
Journal:  Methods Cell Biol       Date:  2007       Impact factor: 1.441

6.  Inappropriate liver transplantation in a child with Alpers-Huttenlocher syndrome misdiagnosed as valproate-induced acute liver failure.

Authors:  A Delarue; O Paut; J M Guys; M F Montfort; V Lethel; B Roquelaure; J F Pellissier; J Sarles; J Camboulives
Journal:  Pediatr Transplant       Date:  2000-02

7.  The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA.

Authors:  H Mandel; R Szargel; V Labay; O Elpeleg; A Saada; A Shalata; Y Anbinder; D Berkowitz; C Hartman; M Barak; S Eriksson; N Cohen
Journal:  Nat Genet       Date:  2001-11       Impact factor: 38.330

8.  Infantile diffuse cerebral degeneration with hepatic cirrhosis.

Authors:  P R Huttenlocher; G B Solitare; G Adams
Journal:  Arch Neurol       Date:  1976-03

9.  The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.

Authors:  Sherine S L Chan; Matthew J Longley; William C Copeland
Journal:  J Biol Chem       Date:  2005-07-16       Impact factor: 5.157

10.  MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.

Authors:  Antonella Spinazzola; Carlo Viscomi; Erika Fernandez-Vizarra; Franco Carrara; Pio D'Adamo; Sarah Calvo; René Massimiliano Marsano; Claudia Donnini; Hans Weiher; Pietro Strisciuglio; Rossella Parini; Emmanuelle Sarzi; Alicia Chan; Salvatore DiMauro; Agnes Rötig; Paolo Gasparini; Iliana Ferrero; Vamsi K Mootha; Valeria Tiranti; Massimo Zeviani
Journal:  Nat Genet       Date:  2006-04-02       Impact factor: 38.330
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  1 in total

1.  Acute liver failure in a military recruit treated with valproic acid and harboring a previously unrecognized POLG-1 mutation.

Authors:  John T Bassett; Benjamin Rodriguez; Lisa Mulligan; Robert J Fontana
Journal:  Epilepsy Behav Rep       Date:  2019-10-25
  1 in total

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