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

verfasst von

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.

Organisationseinheit(en)

Institut für Pflanzengenetik

Externe Organisation(en)

Istituto Nazionale Neurologico C Besta, Milan
Università degli Studi di Padova
Al Makassed Hospital

Typ

Artikel

Journal

Nature medicine

Band

16

Seiten

869-871

Anzahl der Seiten

3

ISSN

1078-8956

Publikationsdatum

08.2010

Publikationsstatus

Veröffentlicht

Peer-reviewed

Ja

ASJC Scopus Sachgebiete

Allgemeine Biochemie, Genetik und Molekularbiologie

Elektronische Version(en)

https://doi.org/10.1038/nm.2188 (Zugang: Unbekannt)