title: Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene.
abstract: Fatty acids play an important role in regulating insulin secretion, but the mechanisms are unclear. We report a case of a novel splice site mutation in the short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) gene associated with hyperinsulinism. This mutation resulted in a nearly complete absence of immunoreactive protein and a decrease in fibroblast SCHAD activity.
authors.affiliation: London Centre for Paediatric Endocrinology and Metabolism, Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College and Great Ormond Street Hospital for Children NHS Trust, 30 Guilford Street, London WC1N 1EH, UK.
authors.forename: Khalid
authors.initials: K
authors.lastname: Hussain
authors.forename: Peter T
authors.initials: PT
authors.lastname: Clayton
authors.forename: Steve
authors.initials: S
authors.lastname: Krywawych
authors.forename: Ilenia
authors.initials: I
authors.lastname: Chatziandreou
authors.forename: Phillipa
authors.initials: P
authors.lastname: Mills
authors.forename: D W
authors.initials: DW
authors.lastname: Ginbey
authors.forename: Ans J J M
authors.initials: AJ
authors.lastname: Geboers
authors.forename: Ruud
authors.initials: R
authors.lastname: Berger
authors.forename: Inge E T
authors.initials: IE
authors.lastname: van den Berg
authors.forename: Simon
authors.initials: S
authors.lastname: Eaton
mesh_terms: D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000235:genetics* / Q000378:metabolism; D002740:Chlorothiazide / Q000627:therapeutic use; D003981:Diazoxide / Q000627:therapeutic use; D004232:Diuretics; D006801:Humans; D006946:Hyperinsulinism / Q000188:drug therapy / Q000235:genetics*; D007223:Infant; D008297:Male; D017354:Point Mutation; D049993:Sodium Chloride Symporter Inhibitors / Q000627:therapeutic use
chemical_list: D004232:Diuretics; D049993:Sodium Chloride Symporter Inhibitors; D002740:Chlorothiazide; D015094:3-Hydroxyacyl CoA Dehydrogenases; D003981:Diazoxide