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

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 disru...

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Bibliographic Details
Published in:	Orphanet journal of rare diseases Vol. 17; no. 1; pp. 1 - 340
Main Authors:	Pata, Silvia, Flores-Rojas, Katherine, Gil, Angel, López-Laso, Eduardo, Marti-Sánchez, Laura, Baide-Mairena, Heydi, Pérez-Dueéas, Belén, Gil-Campos, Mercedes
Format:	Journal Article
Language:	English
Published:	London BioMed Central Ltd 05-09-2022 BioMed Central BMC
Subjects:	Ataxia Atrophy Case reports Case studies Children Diagnosis Diet Diet therapy Dietary restrictions Dystonia Electron transport Enoyl-CoA hydratase Fatty acids Food sources Genetic screening Genomes Genotype & phenotype Health aspects Hydration Intermediates Kyphosis Leigh syndrome Low fat diet Magnetic resonance imaging Medical research Metabolism Metabolism, Inborn errors of Metabolites Mitochondria Motivation Mutation Nutrient deficiency Patients Pediatric research Pediatrics Phenotypes Proteins Pyruvate dehydrogenase (lipoamide) Pyruvic acid Quality of life Rare diseases Scoliosis Valine Walking Spain Germany
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Summary:	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. 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.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	1750-1172 1750-1172
DOI:	10.1186/s13023-022-02468-6