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
Pata, Silvia (Universidad de Córdoba)
Flores-Rojas, Katherine (Universidad de Córdoba)
Gil, Angel (Instituto de Salud Carlos III)
López-Laso, Eduardo (Instituto de Salud Carlos III)
Marti-Sánchez, Laura (Institut de Recerca Sant Joan de Déu)
Baide Mairena, Heidy (Hospital Universitari Vall d'Hebron)
Pérez-Dueñas, Belén (Hospital Universitari Vall d'Hebron)
Gil-Campos, Mercedes (Instituto de Salud Carlos III)
Universitat Autònoma de Barcelona

Data:	2022
Resum:	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. This disrupts the pyruvate dehydrogenase complex and the mitochondrial respiratory chain, with consequent cellular damage. Patients present with a variable age of onset and a wide spectrum of clinical features. The Leigh syndrome phenotype is the most frequently reported form of the disease. Herein, we report a case of a male with ECHS1 deficiency who was diagnosed at 8 years of age. He presented severe dystonia, hyperlordosis, moderate to severe kyphoscoliosis, great difficulty in walking, and severe dysarthria. A valine-restricted and total fat-restricted diet was considered as a therapeutic option after the genetic diagnosis. An available formula that restricted branched-chain amino acids and especially restricted valine was used. We also restricted animal protein intake and provided a low-fat diet that was particularly low in dairy fat. Results: This protein- and fat-restricted diet was initiated with adequate tolerance and adherence. After three years, the patient noticed an improvement in dystonia, especially in walking. He currently requires minimal support to walk or stand. Therefore, he has enhanced his autonomy to go to school or establish a career for himself. His quality of life and motivation for treatment have greatly increased. There is still a substantial lack of knowledge about this rare disorder, especially knowledge about future effective treatments. However, early diagnosis and treatment with a valine- and fat-restricted diet, particularly dairy fat-restricted diet, appeared to limit disease progression in this patient with ECHS1 deficiency.
Ajuts:	Instituto de Salud Carlos III PI18/01319 Instituto de Salud Carlos III PI19/01310 Ministerio de Economía y Competitividad PI16/01048
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Children ; Diet ; Enoyl-CoA hydratase ; Leigh syndrome ; Valine
Publicat a:	Orphanet journal of rare diseases, Vol. 17 Núm. 1 (december 2022) , p. 340, ISSN 1750-1172

DOI: 10.1186/s13023-022-02468-6
PMID: 36064416

10 p, 1.3 MB

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