Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy.

Nature Medicine
Carlo ViscomiMassimo Zeviani

Abstract

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a mitochondrial matrix sulfur dioxygenase, leading to failure to detoxify sulfide, a product of intestinal anaerobes and, in trace amounts, tissues. Metronidazole, a bactericide, or N-acetylcysteine, a precursor of sulfide-buffering glutathione, substantially prolonged the lifespan of Ethe1-deficient mice, with the combined treatment being additive. The same dual treatment caused marked clinical improvement in five affected children, with hardly any adverse or side effects.

References

Nov 6, 2002·Proceedings of the National Academy of Sciences of the United States of America·Anna WredenbergNils-Göran Larsson
Jan 21, 2004·American Journal of Human Genetics·Valeria TirantiMassimo Zeviani
Jul 3, 2007·Current Opinion in Pharmacology·Kondala R AtkuriLeonore A Herzenberg
Oct 20, 2007·Nature Reviews. Drug Discovery·Csaba Szabó
Feb 9, 2008·The Journal of Physiology·Nicholas P WhiteheadDavid G Allen
Mar 6, 2008·PLoS Medicine·Silvia S KangPaul M Allen
Mar 17, 2009·Biochimica Et Biophysica Acta·Daniele MancardiPasquale Pagliaro
Jun 30, 2009·Antioxidants & Redox Signaling·Montserrat MaríJosé C Fernández-Checa

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Citations

Mar 21, 2012·Journal of Comparative Physiology. B, Biochemical, Systemic, and Environmental Physiology·Kenneth R Olson
May 16, 2013·Journal of Inherited Metabolic Disease·Shamima Rahman
Sep 20, 2012·Molecular Therapy : the Journal of the American Society of Gene Therapy·Caterina PortoGiancarlo Parenti
Mar 22, 2012·Antioxidants & Redox Signaling·Benjamin Lee PredmoreGabriel Gojon
Sep 28, 2012·The Pediatric Infectious Disease Journal·Sumit VermaRodney E Willoughby
Aug 21, 2012·EMBO Molecular Medicine·Ivano Di MeoMassimo Zeviani
Apr 5, 2014·Current Treatment Options in Neurology·Sreenivas AvulaAndrea Gropman
Jan 15, 2014·Biochimica Et Biophysica Acta·Omer KabilRuma Banerjee
Jul 18, 2014·Annual Review of Nutrition·Omer KabilRuma Banerjee
Oct 25, 2011·Journal of Inherited Metabolic Disease·Carla GiordanoMassimo Zeviani
Oct 28, 2010·Journal of Inherited Metabolic Disease·Magalie BarthPascale de Lonlay
Dec 3, 2014·Molecular Genetics and Metabolism·Mauro ScarpelliMassimiliano Filosto
Mar 16, 2012·Brain : a Journal of Neurology·James J DowlingAna Ferreiro
Oct 28, 2015·Annals of Neurology·Nicole J LakeDavid R Thorburn
Oct 11, 2014·Molecules : a Journal of Synthetic Chemistry and Natural Product Chemistry·Hideo Kimura
Jul 14, 2012·Advances in Pediatrics·Angela SunDerek A Wong
Jun 17, 2011·Seminars in Fetal & Neonatal Medicine·Anu Suomalainen
Nov 20, 2012·Synapse·Patrícia Fernanda SchuckGustavo Costa Ferreira
Apr 30, 2011·Experimental Physiology·Hideo Kimura
Oct 15, 2013·British Journal of Pharmacology·M KanabusS Rahman
Feb 27, 2016·Brain : a Journal of Neurology·Carlo Dionisi-ViciJean De Ville De Goyet
Jul 16, 2013·Nitric Oxide : Biology and Chemistry·Qian Li, Jack R Lancaster
Jan 15, 2014·The International Journal of Biochemistry & Cell Biology·Ann Saada
Aug 2, 2012·Experimental Neurology·Jacqueline A Hawkins-SalsburyMark S Sands
Feb 2, 2012·Expert Opinion on Pharmacotherapy·Michelangelo MancusoGabriele Siciliano
May 13, 2015·Journal of Inherited Metabolic Disease·Shamima Rahman
Nov 20, 2014·Journal of Inherited Metabolic Disease·Veronika BoczonadiRita Horvath
Mar 15, 2015·Biochimica Et Biophysica Acta·Carlo ViscomiMassimo Zeviani
Nov 26, 2011·Molecular Genetics and Metabolism·Gregory M EnnsGuy Miller
Jan 4, 2012·Molecular Genetics and Metabolism·Clara D M van Karnebeek, Sylvia Stockler
May 4, 2017·Journal of Clinical Medicine·Gregory M Enns, Tina M Cowan
May 19, 2017·Journal of Inherited Metabolic Disease·Zahra NochiNiels Gregersen
Nov 22, 2017·Metabolic Brain Disease·Fatma Derya BulutNeslihan Önenli-Mungan
Aug 9, 2018·British Journal of Pharmacology·Joshua B KohlGuenter Schwarz
Mar 14, 2019·American Journal of Medical Genetics. Part a·Allison TamFernando Scaglia
Oct 25, 2016·Nature Reviews. Disease Primers·Gráinne S GormanDouglass M Turnbull
Nov 16, 2012·Nature·Scott B Vafai, Vamsi K Mootha
Apr 14, 2015·Proceedings of the Japan Academy. Series B, Physical and Biological Sciences·Hideo Kimura
Nov 2, 2017·Clinical Chemistry·Roy W A Peake, Lance H Rodan
Mar 4, 2020·International Journal of Molecular Sciences·Emilia Di GiovanniSonia Melino
Mar 1, 2020·Neurology·Periyasamy GovindarajArun B Taly

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