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)