3-hydroxyisobutyryl-CoA hydrolase (HIBCH) and short-chain enoyl-CoA hydratase (ECHS1 or crotonase) deficiencies are rare disorders in valine catabolism. HIBCH is responsible

A local family, the Melling family, are on a mission to save their son, Archie. Archie Melling was born on

Article by Paige Kissinger reposted from www.thecharge.com Our son Harold was diagnosed with ECHS1 deficiency in March of 2018. In

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 (FAO) is the primary pathway for fatty acid metabolism in humans, performing a key role in

Gene therapy is coming. Indeed, it’s already in Dallas. Millions of North Texas-area patients with previously intractable diseases will benefit

Clinical characteristics. Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) represents a clinical spectrum in which several phenotypes have been described:

Gene replacement therapy is being studied as a treatment option for genetic diseases, and we want to help you understand

In pediatric neurology, many diseases are caused by absent or mutated genes. The genomic revolution has allowed scientists to sequence

Short‐chain enoyl‐CoA hydratase (SCEH or ECHS1) deficiency is a rare inborn error of metabolism caused by biallelic mutations in the