Cysteine is converted into pyruvate and hydrogen sulfide (H2S) through desulphuration and deamination. Then, H2S is oxidised by SQR, after which ETHE1 takes care of converting into sulfite (SO3 2-). One disorder named Ethylmalonic encephalopathy (EE) is linked to this pathway, a rare mitochondrial disease caused by variants within the ETHE1 gene.
This pathway was inspired by Chapter 9 (edition 4) of the book of Blau (ISBN 3642403360 (978-3642403361)).de9eaeaka Sulfite Oxidasef4f9783642403361ISBNPhysician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic DiseasesSpringer2014Nenad BlauCarlo Dionisi ViciK Michael GibsonMarinus Duranethylmalonic encephalopathyDOID:0060640Diseaseethylmalonic encephalopathy pathwayPW:0002206Pathway Ontology20978941PubMedMultiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.J Inherit Metab Dis2010Barth MOttolenghi CHubert LChrétien DSerre VGobin SRomano SVassault ASefiani ARicquier DBoddaert NBrivet Mde Keyzer YMunnich ADuran MRabier DValayannopoulos Vde Lonlay P27856618PubMedCoenzyme Q deficiency causes impairment of the sulfide oxidation pathway.EMBO Mol Med2017Ziosi MDi Meo IKleiner GGao XHBarca ESanchez-Quintero MJTadesse SJiang HQiao CRodenburg RJScalais ESchuelke MWillard BHatzoglou MTiranti VQuinzii CM