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

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

Bringing Hope to Children Through a Revolution in Gene TherapyBringing Hope to Children Through a Revolution in Gene Therapy

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

Clinical, biochemical, and genetic features of four patients with ECHS1Clinical, biochemical, and genetic features of four patients with ECHS1

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