Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene.
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.
Hussain
Khalid
K
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.
Clayton
Peter T
PT
Krywawych
Steve
S
Chatziandreou
Ilenia
I
Mills
Phillipa
P
Ginbey
D W
DW
Geboers
Ans J J M
AJ
Berger
Ruud
R
van den Berg
Inge E T
IE
Eaton
Simon
S
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
D004232:Diuretics; D049993:Sodium Chloride Symporter Inhibitors; D002740:Chlorothiazide; D015094:3-Hydroxyacyl CoA Dehydrogenases; D003981:Diazoxide