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Article

ECHS1 deficiency and its biochemical and clinical phenotype.

American journal of medical genetics. Part A - 1 Oct 2022

Ozlu Can, Chelliah Priya, Dahshi Hamza, Horton Daniel, Edgar Veronica B, Messahel Souad, Kayani Saima

Abstract excerpt

ECHS1 gene encodes a mitochondrial enzyme, short-chain enoyl-CoA hydratase (SCEH). SCEH is involved in fatty acid oxidation ([Sharpe and McKenzie (2018); Mitochondrial fatty acid oxidation disorders associated with short-chain enoyl-CoA hydratase (ECHS1) deficiency, 7: 46]) and valine catabolism ([Fong and Schulz (1977); Purification and properties of pig heart crotonase and the presence of short chain and long...

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PMID: 35856138
DOI: 10.1002/ajmg.a.62895

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