期刊
NATURE MEDICINE
卷 16, 期 8, 页码 869-871出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/nm.2188
关键词
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资金
- Pierfranco and Luisa Mariani Foundation Italy
- Fondazione Telethon-Italy [GGP07019]
- Italian Ministry of Health [RF-INN-2007-634163]
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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