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.

العنوان

Nature Medicine 16, 869–871, (2010), doi:10.1038/nm.2188

الناشر

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بلد الناشر

فلسطين

نوع المنشور

Both (Printed and Online)

المجلد

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السنة

2010

الصفحات

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