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Article

Clinical and biochemical characterization of four patients with mutations in ECHS1.

Orphanet journal of rare diseases - 18 Jun 2015

Ferdinandusse Sacha, Friederich Marisa W, Burlina Alberto, Ruiter Jos P N, Coughlin Curtis R, Dishop Megan K, Gallagher Renata C, Bedoyan Jirair K, Vaz Frédéric M, Waterham Hans R, Gowan Katherine, Chatfield Kathryn, Bloom Kaitlyn, Bennett Michael J, Elpeleg Orly, Van Hove Johan L K, Wanders Ronald J A

Abstract excerpt

BACKGROUND: Short-chain enoyl-CoA hydratase (SCEH, encoded by ECHS1) catalyzes hydration of 2-trans-enoyl-CoAs to 3(S)-hydroxy-acyl-CoAs. SCEH has a broad substrate specificity and is believed to play an important role in mitochondrial fatty acid oxidation and in the metabolism of branched-chain amino acids. Recently, the first patients with SCEH deficiency have been reported revealing only a defect in valine...

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Identifiers

PMID: 26081110
DOI: 10.1186/s13023-015-0290-1
PMCID: PMC4474341

Genes

ECHS1

Provenance

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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