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

Carlo Viscomi; Alberto B. Burlina; Imad Dweikat; Mario Savoiardo; Costanza Lamperti; Tatjana Hildebrandt; Valeria Tiranti; Massimo Zeviani

doi:10.1038/nm.2188

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

Carlo Viscomi, Alberto B. Burlina, Imad Dweikat, Mario Savoiardo, Costanza Lamperti, Tatjana Hildebrandt, Valeria Tiranti, Massimo Zeviani

Fondazione IRCCS Istituto Neurologico "C. Besta"

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	869-871
Number of pages	3
Journal	Nature Medicine
Volume	16
Issue number	8
DOIs	https://doi.org/10.1038/nm.2188
Publication status	Published - Aug 2010

ASJC Scopus subject areas

Biochemistry, Genetics and Molecular Biology(all)
Medicine(all)

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10.1038/nm.2188

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Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy. / Viscomi, Carlo; Burlina, Alberto B.; Dweikat, Imad; Savoiardo, Mario; Lamperti, Costanza; Hildebrandt, Tatjana; Tiranti, Valeria; Zeviani, Massimo.

In: Nature Medicine, Vol. 16, No. 8, 08.2010, p. 869-871.

Research output: Contribution to journal › Article › peer-review

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