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

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.

journal_name

Nat Med

journal_title

Nature medicine

authors

Viscomi C,Burlina AB,Dweikat I,Savoiardo M,Lamperti C,Hildebrandt T,Tiranti V,Zeviani M

doi

10.1038/nm.2188

subject

Has Abstract

pub_date

2010-08-01 00:00:00

pages

869-71

issue

8

eissn

1078-8956

issn

1546-170X

pii

nm.2188

journal_volume

16

pub_type

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