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 Medjournal_title
Nature medicineauthors
Viscomi C,Burlina AB,Dweikat I,Savoiardo M,Lamperti C,Hildebrandt T,Tiranti V,Zeviani Mdoi
10.1038/nm.2188subject
Has Abstractpub_date
2010-08-01 00:00:00pages
869-71issue
8eissn
1078-8956issn
1546-170Xpii
nm.2188journal_volume
16pub_type
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