ECHS1 gene encodes a mitochondrial enzyme, short-chain enoyl-CoA hydratase (SCEH). SCEH is involved in fatty acid oxidation ([Sharpe and McKenzie (2018);
Pathogenic Biallelic Mutations in ECHS1 in a Case with Short-Chain Enoyl-CoA Hydratase (SCEH)Pathogenic Biallelic Mutations in ECHS1 in a Case with Short-Chain Enoyl-CoA Hydratase (SCEH)
ECHS1 gene mutations are known to cause mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, a neurodegenerative disorder characterized by psychomotor development delay,
C-Path and Cure Mito Announce Data Sharing Agreement to Support Treatment Development For Leigh Syndrome and Mitochondrial DiseaseC-Path and Cure Mito Announce Data Sharing Agreement to Support Treatment Development For Leigh Syndrome and Mitochondrial Disease
Critical Path Institute (C-Path) and Cure Mito Foundation (Cure Mito) today announced a joint collaboration to significantly promote data sharing
Exploring triheptanoin as treatment for short chain enoyl CoA hydratase deficiencyExploring triheptanoin as treatment for short chain enoyl CoA hydratase deficiency
Abstract We explored the benefits of triheptanoin as a treatment for Short Chain Enoyl Co‐A Hydratase (SCEH) deficiency. One child
Treatable mitochondrial diseases: co-factor metabolism and beyondTreatable mitochondrial diseases: co-factor metabolism and beyond
In the past, numerous articles related to disorders of mitochondrial cofactor metabolism have been published in Brain. These studies not only
Understanding the role of OXPHOS dysfunction in the pathogenesis of ECHS1 deficiencyUnderstanding the role of OXPHOS dysfunction in the pathogenesis of ECHS1 deficiency
Mitochondria provide the main source of energy for eukaryotic cells, oxidizing fatty acids and sugars to generate ATP. Mitochondrial fatty
Medical nutrition therapy in ECHS1 patients: Clinical and biochemical response to low valine dietMedical nutrition therapy in ECHS1 patients: Clinical and biochemical response to low valine diet
3-hydroxyisobutyryl-CoA hydrolase (HIBCH) and short-chain enoyl-CoA hydratase (ECHS1 or crotonase) deficiencies are rare disorders in valine catabolism. HIBCH is responsible
Australia: We can help Archie find a cure for ECHS1Australia: We can help Archie find a cure for ECHS1
A local family, the Melling family, are on a mission to save their son, Archie. Archie Melling was born on
The Charge: the story of Harold KissingerThe Charge: the story of Harold Kissinger
Article by Paige Kissinger reposted from www.thecharge.com Our son Harold was diagnosed with ECHS1 deficiency in March of 2018. In
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvementDeficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement
Short-chain enoyl-CoA hydratase (ECHS1) is a multifunctional mitochondrial matrix enzyme that is involved in the oxidation of fatty acids and