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

Research output: Contribution to journalArticlepeer-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 languageEnglish
Pages (from-to)869-871
Number of pages3
JournalNature Medicine
Volume16
Issue number8
DOIs
Publication statusPublished - Aug 2010

ASJC Scopus subject areas

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

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