Combined Treatment with Oral metronidazole and N-acetylcysteine is Effective in Ethylmalonic Encephalopathy
- Publication Type
- Original research
- Authors
- Carlo Viscomi
- Alberto B Burlina
- Imad Dweikat
- Mario Savoiardo
- Costanza Lamperti
- Tatjana Hildebrandt
- Valeria Tiranti
- Massimo Zeviani
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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.
Journal
- Title
- Nature Medicine 16, 869–871, (2010), doi:10.1038/nm.2188
- Publisher
- --
- Publisher Country
- Palestine
- Publication Type
- Both (Printed and Online)
- Volume
- --
- Year
- 2010
- Pages
- --