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
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
UR - http://www.scopus.com/inward/citedby.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 -