A multi-center retrospective chart analysis identifying clinical, biochemical, and radiographic signatures of short-chain enoyl-CoA hydratase (ECHS1) deficiency

Neonatal-onset ECHS1 deficiency shows early severe multisystem disease with 62.5% mortality, while infantile and late-onset forms have markedly lower mortality in diagnosed patients.

• Why it matters: The disorder’s clinical variability makes recognition difficult, and prior case summaries were limited, leaving gaps in clear clinical, biochemical, and radiographic signatures by onset group.
• What they did: In a multi-center retrospective chart analysis, the study compiled 26 new diagnosed patients plus a literature review of 87 previously reported cases, classifying them into neonatal, infantile, and late-onset groups.
• The result: Neonatal cases often had lactic acidosis, hypotonia, and cardiomyopathy; infantile cases frequently showed dystonia, developmental delay, and basal ganglia involvement; late-onset cases had more localized neurologic symptoms with 0% mortality overall. Newly reported neonatal survival was 37.5% versus 18.2% in prior reports, possibly linked to earlier recognition and greater use of N-acetylcysteine, sodium dichloroacetate, and a valine-restricted diet.

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