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Article

Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population.

Molecular genetics and metabolism - 1 Jul 2024

Bernhardt Isaac, Frajman Leah E, Ryder Bryony, Andersen Erik, Wilson Callum, McKeown Colina, Anderson Tim, Coman David, Vincent Andrea L, Buchanan Christina, Roxburgh Richard, Pitt James, De Hora Mark, Christodoulou John, Thorburn David R, Wilson Francessa, Drake Kylie M, Leask Megan, Yardley Anne-Marie, Merriman Tony, Robertson Stephen, Compton Alison G, Glamuzina Emma

Abstract excerpt

Short-chain enoyl-coA hydratase (SCEH) deficiency due to biallelic pathogenic ECHS1 variants was first reported in 2014 in association with Leigh syndrome (LS) and increased S-(2-carboxypropyl)cysteine excretion. It is potentially treatable with a valine-restricted, high-energy diet and emergency regimen. Recently, Simon et al. described four Samoan children harbouring a hypomorphic allele (c.489G > A, p.Pro163=)...

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Australia
Child
Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38820906
DOI: 10.1016/j.ymgme.2024.108508

Genes

ECHS1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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