Neuropathological Findings in Short-Chain enoyl-CoA Hydratase 1 Deficiency (ECHS1D): Case Report and Differential Diagnosis
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric and Developmental Pathology"
DOI: 10.1177/10935266221134650
Abstract: Short-chain enoyl-CoA hydratase 1 (ECHS1) is an enzyme that participates in the metabolism of valine, transforming methacrylyl-CoA in β–hydroxy–isobutyryl-CoA. There is an accumulation of intermediate acids and ammonium as a consequence of its deficit. This… read more here.
Keywords: coa hydratase; chain enoyl; enoyl coa; coa ... See more keywords
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