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Pathogenic Biallelic Mutations in ECHS1 in a Case with Short-Chain Enoyl-CoA Hydratase (SCEH) Deficiency-Case Report and Literature Review.

International journal of environmental research and public health - 13 Feb 2022

Muntean Carmen, Tripon Florin, Bogliș Alina, Bănescu Claudia

Abstract excerpt

ECHS1 gene mutations are known to cause mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, a neurodegenerative disorder characterized by psychomotor development delay, lactic acidosis, and basal ganglia lesions resembling Leigh syndrome. Short-chain enoyl-CoA hydratase 1 (ECHS1) deficiency is a very rare and new disorder, with a wide phenotypic spectrum and different outcomes ranging from neonatal death...

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PMID: 35206276
DOI: 10.3390/ijerph19042088
PMCID: PMC8871535

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