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

Short-chain enoyl-CoA hydratase (ECHS1) catalyzes the hydration of C4-C6 acyl-CoA molecules to produce ATP in fatty acid {beta}-oxidation. Deficiency of the ECHS1 enzyme, ECHS1D, is a rare autosomal recessive disorder that presents with a large and pleomorphic clinical spectrum. We present the largest comprehensive study of known diagnosed ECHS1D patients to date, reporting 26 new patients and 8 novel variants in conjunction with a literature review of 87 previously reported patients. All patients were categorized into neonatal, infantile, and late-onset groups based on age of onset and clinic

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