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Article

Two novel ECHS1 variants, affecting splicing and reducing enzyme activity, is associated with mitochondrial encephalopathy in infant: a case report.

BMC neurology - 30 Apr 2020

Wu Miaojuan, Gao Wenqi, Deng Zhifang, Liu Zhisheng, Ma Jiehui, Xiao Han, Xu Yu, Sun Dan

Abstract excerpt

BACKGROUND: Short-chain enoyl-CoA hydratase (ECHS1) is a multifunctional mitochondrial matrix enzyme involved in the second step of mitochondrial fatty acid β-oxidation. Mitochondrial diseases resulting from ECHS1 mutations are often characterised by encephalopathy, deafness, epilepsy, optic atrophy, cardiomyopathy, dystonia, and lactic acidosis. In this study, we report two novel heterogeneous variants,...

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Identifiers

PMID: 32354323
DOI: 10.1186/s12883-020-01735-y
PMCID: PMC7193542

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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