Details
| Original language | English |
|---|---|
| Pages (from-to) | 869-871 |
| Number of pages | 3 |
| Journal | Nature medicine |
| Volume | 16 |
| Issue number | 8 |
| Publication status | Published - Aug 2010 |
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.
ASJC Scopus subject areas
- Biochemistry, Genetics and Molecular Biology(all)
- General Biochemistry,Genetics and Molecular Biology
Cite this
- Standard
- Harvard
- Apa
- Vancouver
- BibTeX
- RIS
In: Nature medicine, Vol. 16, No. 8, 08.2010, p. 869-871.
Research output: Contribution to journal › Article › Research › peer review
}
TY - JOUR
T1 - Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy
AU - Viscomi, Carlo
AU - Burlina, Alberto B.
AU - Dweikat, Imad
AU - Savoiardo, Mario
AU - Lamperti, Costanza
AU - Hildebrandt, Tatjana
AU - Tiranti, Valeria
AU - Zeviani, Massimo
N1 - Funding Information: This work was supported by the Pierfranco and Luisa Mariani Foundation Italy, Fondazione Telethon-Italy grant number GGP07019 and grant RF-INN-2007-634163 of the Italian Ministry of Health. We thank E. Lamantea for assistance in the preparation of figures and S. Ravaglia for help in statistical analyses.
PY - 2010/8
Y1 - 2010/8
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=77955427368&partnerID=8YFLogxK
U2 - 10.1038/nm.2188
DO - 10.1038/nm.2188
M3 - Article
C2 - 20657580
AN - SCOPUS:77955427368
VL - 16
SP - 869
EP - 871
JO - Nature medicine
JF - Nature medicine
SN - 1078-8956
IS - 8
ER -