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)).

Authors

Denise Slenter , Andra Waagmeester , Egon Willighagen , Eric Weitz , Finterly Hu , and Friederike Ehrhart

Cited In

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Organism

Homo sapiens

Communities

Inborn Errors of Metabolism (IEM) Pathways Rare Diseases

Annotations

Pathway Ontology: ethylmalonic encephalopathy pathway

Disease Ontology: ethylmalonic encephalopathy

Participants

References

1. Blau N, Duran M, Gibson KM, Dionisi-Vici C. Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases [Internet]. Springer; 2014. 867 p. Available from: https://books.google.com/books/about/Physician_s_Guide_to_the_Diagnosis_Treat.html?hl=&id=wJRBnwEACAAJ OpenLibrary Worldcat
2. Barth M, Ottolenghi C, Hubert L, Chrétien D, Serre V, Gobin S, et al. Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S443-53. PubMed Europe PMC Scholia
3. Ziosi M, Di Meo I, Kleiner G, Gao X-H, Barca E, Sanchez-Quintero MJ, et al. Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway. EMBO Mol Med. 2017 Jan;9(1):96–111. PubMed Europe PMC Scholia