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
Mitochondrial Fatty Acid Oxidation Disorders Associated with Short-Chain Enoyl-CoA Hydratase (ECHS1) DeficiencyMitochondrial Fatty Acid Oxidation Disorders Associated with Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency
Mitochondrial fatty acid -oxidation (FAO) is the primary pathway for fatty acid metabolism in humans, performing a key role in
Gene Therapy Is Producing Remarkable Medical Cures, But It Isn’t CheapGene Therapy Is Producing Remarkable Medical Cures, But It Isn’t Cheap
Gene therapy is coming. Indeed, it’s already in Dallas. Millions of North Texas-area patients with previously intractable diseases will benefit
Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency (ECHS1)Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency (ECHS1)
Clinical characteristics. Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) represents a clinical spectrum in which several phenotypes have been described:
How does gene replacement therapy work?How does gene replacement therapy work?
Gene replacement therapy is being studied as a treatment option for genetic diseases, and we want to help you understand