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,

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

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

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