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

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...

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Detalles Bibliográficos
Autores principales: Muntean, Carmen, Tripon, Florin, Bogliș, Alina, Bănescu, Claudia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8871535/
https://www.ncbi.nlm.nih.gov/pubmed/35206276
http://dx.doi.org/10.3390/ijerph19042088

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8871535/
https://www.ncbi.nlm.nih.gov/pubmed/35206276
http://dx.doi.org/10.3390/ijerph19042088

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