Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy
- authored by
- Carlo Viscomi, Alberto B. Burlina, Imad Dweikat, Mario Savoiardo, Costanza Lamperti, Tatjana Hildebrandt, Valeria Tiranti, Massimo 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.
- Organisation(s)
-
Institute of Plant Genetics
- External Organisation(s)
-
Istituto Nazionale Neurologico C Besta, Milan
University of Padova
Al Makassed Hospital
- Type
- Article
- Journal
- Nature medicine
- Volume
- 16
- Pages
- 869-871
- No. of pages
- 3
- ISSN
- 1078-8956
- Publication date
- 08.2010
- Publication status
- Published
- Peer reviewed
- Yes
- ASJC Scopus subject areas
- Biochemistry, Genetics and Molecular Biology(all)
- Electronic version(s)
-
https://doi.org/10.1038/nm.2188 (Access:
Unknown)