Clinical, Biochemical and Molecular Characterization of Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency.
Sign Up to like & getrecommendations! Published in 2025 at "Neurology India"
DOI: 10.4103/ni.ni_579_22
Abstract: Short-chain enoyl-CoA hydratase (ECHS1) (OMIM 602292) deficiency is a rare autosomal recessive inborn error of metabolism caused by pathogenic variants in the ECHS1 gene. Features of encephalopathy, movement disorders, developmental delay, high lactate, seizures, and… read more here.
Keywords: short chain; hydratase echs1; enoyl coa; coa hydratase ... See more keywords