Novel insights into fatty acid oxidation, amino acid metabolism, and insulin secretion from studying patients with loss of function mutations in 3-hydroxyacyl-CoA dehydrogenase.

Abstract excerpt

CONTEXT: Mutations causing genetic defects have been described in many of the enzymes involved in mitochondrial fatty acid oxidation (FAO). Recently, mutations in the penultimate enzyme in the FAO chain have been described that result in quite different symptoms from those normally seen. Patients with mutations in 3-hydroxyacyl-CoA dehydrogenase (HADH) present with protein (leucine)-induced hyperinsulinemic...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to 3-Hydroxyacyl CoA Dehydrogenases
• Share to Amino Acids