Clinical improvements after treatment with a low-valine and low-fat diet in a pediatric patient with enoyl-CoA hydratase, short chain 1 (ECHS1) deficiency

BACKGROUND: Enoyl-CoA hydratase short-chain 1 (ECHS1) is a key mitochondrial enzyme that is involved in valine catabolism and fatty acid beta-oxidation. Mutations in the ECHS1 gene lead to enzymatic deficiency, resulting in the accumulation of certain intermediates from the valine catabolism pathway...

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Detalles Bibliográficos
Autores principales: Pata, Silvia, Flores-Rojas, Katherine, Gil, Angel, López-Laso, Eduardo, Marti-Sánchez, Laura, Baide-Mairena, Heydi, Pérez-Dueñas, Belén, Gil-Campos, Mercedes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9446769/
https://www.ncbi.nlm.nih.gov/pubmed/36064416
http://dx.doi.org/10.1186/s13023-022-02468-6

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