Article

Valine restriction extends survival in a <i>Drosophila</i> model of short-chain enoyl-CoA hydratase 1 (ECHS1) deficiency

2024-08-17

Abstract excerpt

<h4>Summary</h4> 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 development of new treatments is hindered by the low pr...

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Literature Corpus work: 1a9b97af-ecfc-59b7-a296-d35c7324fbd0
DOI: 10.1101/2024.08.15.608013

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