Combined Treatment with Oral Metronidazole and N-acetylcysteine is Effective in Ethylmalonic Encephalopathy

Overview

Journal Nat Med

Specialties General Medicine
Molecular Biology

Date 2010 Jul 27

PMID 20657580

Citations 73

Authors

Carlo Viscomi

Alberto B Burlina

Imad Dweikat

Mario Savoiardo

Costanza Lamperti

Tatjana Hildebrandt

Valeria Tiranti

Massimo Zeviani

Affiliations

Soon will be listed here.

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.

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