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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Hauptverfasser:	Silvia Pata, Katherine Flores-Rojas, Angel Gil, Eduardo López-Laso, Laura Marti-Sánchez, Heydi Baide-Mairena, Belén Pérez-Dueñas, Mercedes Gil-Campos
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	BMC 2022-09-01
Schriftenreihe:	Orphanet Journal of Rare Diseases
Schlagworte:	Children Enoyl-CoA hydratase Leigh syndrome Diet Valine
Online-Zugang:	https://doi.org/10.1186/s13023-022-02468-6
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