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Article

Valine Restriction Extends Survival in a Drosophila Model of Short-Chain Enoyl-CoA Hydratase 1 (ECHS1) Deficiency.

Journal of inherited metabolic disease - 1 Jan 2025

Mele Sarah, Martelli Felipe, Barlow Christopher K, Jefferies Grace, Dworkin Sebastian, Christodoulou John, Schittenhelm Ralf B, Piper Matthew D W, Johnson Travis K

Abstract excerpt

Short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) is a rare genetic disorder caused by biallelic pathogenic variants in the ECHS1 gene. ECHS1D is characterised by severe neurological and physical impairment that often leads to childhood mortality. Therapies such as protein and single nutrient-restricted diets show poor efficacy, whereas the development of new treatments is hindered by the low prevalence of...

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PMID: 39727068
DOI: 10.1002/jimd.12840

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