期刊
ORPHANET JOURNAL OF RARE DISEASES
卷 17, 期 1, 页码 -出版社
BMC
DOI: 10.1186/s13023-022-02468-6
关键词
Children; Enoyl-CoA hydratase; Leigh syndrome; Diet; Valine
资金
- Instituto de Salud Carlos III [PI18/01319]
- CERCA Programme/Generalitat de Catalunya
- Agencia de Gestio d'Ajuts Universitaris i de Recerca (AGAUR)
- Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER)
- Instituto de Salud Carlos III (ISCIII) [PI19/01310, PI16/01048]
This article reports a case of a male patient diagnosed with ECHS1 deficiency at the age of 8. The patient achieved good therapeutic effect and improved quality of life with valine and fat-restricted diet treatment.
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 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. Conclusions 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.
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