Ethylmalonic encephalopathy (Homo sapiens)

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Inner mitochondrialmembrane Mitochondria21EthylmalonicencephalopathyRhodaneseCysteineR-SSH, example:S-sulfanylglutathioneETHE1ElectronO2PyruvateSOXSO3 2-(sulfite)SQRCoEnzyme QOXPHOS pathwayH2S3R, example:glutathioneSO4 2-(sulfate)S2O3 2-(thiosulfate)2 H2O


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)).

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Ontology Terms



  1. Barth M, Ottolenghi C, Hubert L, Chr├ętien D, Serre V, Gobin S, Romano S, Vassault A, Sefiani A, Ricquier D, Boddaert N, Brivet M, de Keyzer Y, Munnich A, Duran M, Rabier D, Valayannopoulos V, de Lonlay P; ''Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.''; J Inherit Metab Dis, 2010 PubMed Europe PMC Scholia
  2. Nenad Blau, Carlo Dionisi Vici, K Michael Gibson, Marinus Duran; ''Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases''; Springer, 2014
  3. Ziosi M, Di Meo I, Kleiner G, Gao XH, Barca E, Sanchez-Quintero MJ, Tadesse S, Jiang H, Qiao C, Rodenburg RJ, Scalais E, Schuelke M, Willard B, Hatzoglou M, Tiranti V, Quinzii CM; ''Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway.''; EMBO Mol Med, 2017 PubMed Europe PMC Scholia


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120416view09:37, 30 November 2021Fehrhartfixed graphical clash
119100view09:45, 17 June 2021FinterlyAdded ISBN for book citation
117100view11:32, 17 May 2021EweitzModified title
115141view16:07, 28 January 2021EgonwMade one pathway clickable
114229view21:30, 27 December 2020Andraconnecting lines
114174view16:55, 23 December 2020DeSlOntology Term : 'ethylmalonic encephalopathy pathway' added !
114173view16:55, 23 December 2020DeSlOntology Term : 'ethylmalonic encephalopathy' added !
114172view16:54, 23 December 2020DeSlAdded O2 -> H2O info.
114171view16:49, 23 December 2020DeSlAdded cysteine,pyruvate
114170view16:47, 23 December 2020DeSlAdded disease explanation to description
114169view16:41, 23 December 2020DeSlAnnotated missing protein.
114168view16:39, 23 December 2020DeSlAdded lit. ref for disorder
114167view16:37, 23 December 2020DeSlAdded lit refs.
114164view16:34, 23 December 2020DeSlNew pathway

External references


View all...
NameTypeDatabase referenceComment
2 H2OMetaboliteCHEBI:15377 (ChEBI)
CoEnzyme QMetaboliteCHEBI:46245 (ChEBI)
CysteineMetaboliteCHEBI:15356 (ChEBI)
ETHE1ProteinO95571 (Uniprot-TrEMBL)
ElectronMetaboliteCHEBI:10545 (ChEBI)
H2SMetaboliteCHEBI:16136 (ChEBI)
O2MetaboliteCHEBI:15379 (ChEBI)
OXPHOS pathwayPathwayWP78 (WikiPathways)
PyruvateMetaboliteCHEBI:32816 (ChEBI)
R, example: glutathioneMetaboliteCHEBI:57925 (ChEBI)
R-SSH, example: S-sulfanylglutathioneMetaboliteCHEBI:58905 (ChEBI)
RhodaneseProteinQ16762 (Uniprot-TrEMBL)
S2O3 2- (thiosulfate)MetaboliteCHEBI:16094 (ChEBI)
SO3 2- (sulfite)MetaboliteCHEBI:17359 (ChEBI)
SO4 2- (sulfate)MetaboliteCHEBI:16189 (ChEBI)
SOXProteinP51687 (Uniprot-TrEMBL) aka Sulfite Oxidase
SQRProtein1.8.5.4 (Enzyme Nomenclature)

Annotated Interactions

SourceTargetTypeDatabase referenceComment
R-SSH, example: S-sulfanylglutathioneSO3 2- (sulfite)mim-conversion12982 (Rhea)
SO3 2- (sulfite)SO4 2- (sulfate)mim-conversion24601 (Rhea)
mim-conversion12982 (Rhea)
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