Article
Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.
Molecular genetics and metabolism - 1 Apr 2017
Bedoyan Jirair K, Yang Samuel P, Ferdinandusse Sacha, Jack Rhona M, Miron Alexander, Grahame George, DeBrosse Suzanne D, Hoppel Charles L, Kerr Douglas S, Wanders Ronald J A
Abstract excerpt
Mutations in ECHS1 result in short-chain enoyl-CoA hydratase (SCEH) deficiency which mainly affects the catabolism of various amino acids, particularly valine. We describe a case compound heterozygous for ECHS1 mutations c.836T>C (novel) and c.8C>A identified by whole exome sequencing of proband and parents. SCEH deficiency was confirmed with very low SCEH activity in fibroblasts and nearly absent...
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