title: Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy.
abstract: 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.
authors.affiliation: Pierfranco and Luisa Mariani Center for Research on Children's Mitochondrial Disorders, Unit of Molecular Neurogenetics, Institute of Neurology Carlo Besta, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Foundation, Milan, Italy. tiranti@istituto-besta.it
authors.forename: Valeria
authors.initials: V
authors.lastname: Tiranti
authors.forename: Massimo
authors.initials: M
authors.lastname: Zeviani
mesh_terms: D000890:Anti-Infective Agents / Q000627:therapeutic use; D020739:Brain Diseases, Metabolic, Inborn / Q000188:drug therapy / Q000378:metabolism* / Q000628:therapy; D006801:Humans; D006862:Hydrogen Sulfide / Q000378:metabolism*; D008795:Metronidazole / Q000627:therapeutic use; D008954:Models, Biological; D010084:Oxidation-Reduction; D011693:Purpura / Q000188:drug therapy / Q000378:metabolism* / Q000628:therapy; D015398:Signal Transduction
chemical_list: D000890:Anti-Infective Agents; D008795:Metronidazole; D006862:Hydrogen Sulfide