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

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

Abstract 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...

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Bibliographic Details
Main Authors: Silvia Pata, Katherine Flores-Rojas, Angel Gil, Eduardo López-Laso, Laura Marti-Sánchez, Heydi Baide-Mairena, Belén Pérez-Dueñas, Mercedes Gil-Campos
Format: Article
Language:English
Published: BMC 2022-09-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Children
Enoyl-CoA hydratase
Leigh syndrome
Diet
Valine
Online Access:https://doi.org/10.1186/s13023-022-02468-6

Internet

https://doi.org/10.1186/s13023-022-02468-6

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