ECHS1: pathogenic mechanisms, experimental models, and emerging therapeutic strategies

ECHS1: pathogenic mechanisms, experimental models, and emerging therapeutic strategies

Abstract The ECHS1 (short-chain enoyl-CoA hydratase 1) gene is critical for mitochondrial fatty acid β-oxidation and branched-chain amino acid metabolism. Mutations in ECHS1 lead to severe mitochondrial dysfunction and are implicated in rare metabolic and neurodegenerative disorders. This review sum...

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Bibliographic Details
Main Authors: Qiang Fu, Rui Qiu, Shang Li, Yuxiang Qin, Ziyi Lu, Shanxin Liyao, Zimo Yang, Xiang Cheng, Yuewen Chen, Huan Xu, Yong Cheng
Format: Article
Language:English
Published: BMC 2025-08-01
Series:Orphanet Journal of Rare Diseases
Subjects:
ECHS1 protein, human
Mitochondrial diseases
Fatty acids, volatile
Beta-oxidation
Genetic therapy
Online Access:https://doi.org/10.1186/s13023-025-03959-y
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