Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy.

TitleAltered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy.
Publication TypeJournal Article
Year of Publication2013
AuthorsTiranti, V, Zeviani, M
JournalCold Spring Harb Perspect Biol
Date Published2013 Jan 01
KeywordsAnti-Infective Agents, Brain Diseases, Metabolic, Inborn, Humans, Hydrogen Sulfide, Metronidazole, Models, Biological, Oxidation-Reduction, Purpura, Signal Transduction

Hydrogen sulfide (sulfide, H(2)S) is a colorless, water-soluble gas with a typical smell of rotten eggs. In the past, it has been investigated for its role as a potent toxic gas emanating from sewers and swamps or as a by-product of industrial processes. At high concentrations, H(2)S is a powerful inhibitor of cytochrome c oxidase; in trace amounts, it is an important signaling molecule, like nitric oxide (NO) and carbon monoxide (CO), together termed "gasotransmitters." This review will cover the physiological role and the pathogenic effects of H(2)S, focusing on ethylmalonic encephalopathy, a human mitochondrial disorder caused by genetic abnormalities of sulfide metabolism. We will also discuss the options that are now conceivable for preventing genetically driven chronic H(2)S toxicity, taking into account that a complete understanding of the physiopathology of H(2)S has still to be achieved.

Alternate JournalCold Spring Harb Perspect Biol
Citation Key10.1101/cshperspect.a011437
PubMed ID23284046
PubMed Central IDPMC3579397