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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

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