TY  - JOUR
AU  - Pata, Silvia
AU  - Flores-Rojas, Katherine
AU  - Gil, Angel
AU  - Lopez-Laso, Eduardo
AU  - Marti-Sanchez, Laura
AU  - Baide-Mairena, Heydi
AU  - Perez-Dueñas, Belen
AU  - Gil-Campos, Mercedes
PY  - 2022
DO  - 10.1186/s13023-022-02468-6
UR  - http://hdl.handle.net/10668/20342
T2  - Orphanet journal of rare diseases
AB  - 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...
LA  - en
PB  - BioMed Central
KW  - Children
KW  - Diet
KW  - Enoyl-CoA hydratase
KW  - Leigh syndrome
KW  - Valine
KW  - Animals
KW  - Diet, fat-restricted
KW  - Dystonia
KW  - Enoyl-CoA hydratase
KW  - Humans
KW  - Male
KW  - Quality of life
KW  - Valine
TI  - 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.
TY  - research article
VL  - 17
ER  -