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

Valeria Tiranti, Massimo Zeviani

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
JournalCold Spring Harbor perspectives in biology
Issue number1
Publication statusPublished - Jan 2013

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)


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