Article
Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.
American journal of medical genetics. Part A - 1 May 2018
Fitzsimons Patricia E, Alston Charlotte L, Bonnen Penelope E, Hughes Joanne, Crushell Ellen, Geraghty Michael T, Tetreault Martine, O'Reilly Peter, Twomey Eilish, Sheikh Yusra, Walsh Richard, Waterham Hans R, Ferdinandusse Sacha, Wanders Ronald J A, Taylor Robert W, Pitt James J, Mayne Philip D
Abstract excerpt
Short-chain enoyl-CoA hydratase (SCEH or ECHS1) deficiency is a rare inborn error of metabolism caused by biallelic mutations in the gene ECHS1 (OMIM 602292). Clinical presentation includes infantile-onset severe developmental delay, regression, seizures, elevated lactate, and brain MRI abnormalities consistent with Leigh syndrome (LS). Characteristic abnormal biochemical findings are secondary to dysfunction of...
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