WP5030 - Ethylmalonic encephalopathy - Homo sapiens

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)).半胱氨酸（Cysteine）通过脱硫与脱氨反应转化为丙酮酸（pyruvate）与硫化氢（H₂S）。随后，硫化氢经SQR氧化，再由ETHE1催化转化为亚硫酸盐（SO₃²⁻）。乙基丙二酸脑病（Ethylmalonic encephalopathy, EE）与该通路密切相关，它是一种由ETHE1基因变异引发的罕见线粒体疾病。 本通路的设计参考自Blau所著书籍的第9章（第4版，ISBN 3642403360（978-3642403361））。