title: Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with hyperinsulinism: a novel glucose-fatty acid cycle?
abstract: Hyperinsulinism of infancy is caused by inappropriate insulin secretion in pancreatic beta-cells, even when blood glucose is low. Several molecular defects are known to cause hyperinsulinism of infancy, such as K(ATP) channelopathies and regulatory defects of glucokinase and glutamate dehydrogenase. Although defects of fatty acid oxidation have not previously been known to cause hyperinsulinism, patients with deficiency in SCHAD (short-chain 3-hydroxyacyl-CoA dehydrogenase; an enzyme of mitochondrial beta-oxidation) have hyperinsulinism. A novel link between fatty acid oxidation and insulin secretion may explain hyperinsulinism in these patients.
authors.affiliation: Department of Paediatric Surgery, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, U.K. s.eaton@ich.ucl.ac.uk
authors.forename: S
authors.initials: S
authors.lastname: Eaton
authors.forename: I
authors.initials: I
authors.lastname: Chatziandreou
authors.forename: S
authors.initials: S
authors.lastname: Krywawych
authors.forename: S
authors.initials: S
authors.lastname: Pen
authors.forename: P T
authors.initials: PT
authors.lastname: Clayton
authors.forename: K
authors.initials: K
authors.lastname: Hussain
mesh_terms: D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency* / Q000235:genetics; D000818:Animals; D005227:Fatty Acids / Q000378:metabolism*; D005947:Glucose / Q000378:metabolism*; D006946:Hyperinsulinism / Q000201:enzymology*; D007328:Insulin / Q000378:metabolism; D000078790:Insulin Secretion; D009154:Mutation
chemical_list: D005227:Fatty Acids; D007328:Insulin; D015094:3-Hydroxyacyl CoA Dehydrogenases; D005947:Glucose