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Nat Med. 2010 Aug;16(8):869-71. doi: 10.1038/nm.2188. Epub 2010 Jul 25.

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

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1
The Foundation Carlo Besta Institute of Neurology, Milan, Italy.

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.

PMID:
20657580
DOI:
10.1038/nm.2188
[Indexed for MEDLINE]
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