Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene

Khalid Hussain; Peter T Clayton; Steve Krywawych; Ilenia Chatziandreou; Phillipa Mills; D W Ginbey; Ans J J M Geboers; Ruud Berger; Inge E T van den Berg; Simon Eaton

doi:10.1016/j.jpeds.2005.01.032

Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene

J Pediatr. 2005 May;146(5):706-8. doi: 10.1016/j.jpeds.2005.01.032.

Authors

Khalid Hussain¹, Peter T Clayton, Steve Krywawych, Ilenia Chatziandreou, Phillipa Mills, D W Ginbey, Ans J J M Geboers, Ruud Berger, Inge E T van den Berg, Simon Eaton

Affiliation

¹ 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.

PMID: 15870679
DOI: 10.1016/j.jpeds.2005.01.032

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

3-Hydroxyacyl CoA Dehydrogenases / genetics*
3-Hydroxyacyl CoA Dehydrogenases / metabolism
Chlorothiazide / therapeutic use
Diazoxide / therapeutic use
Diuretics
Humans
Hyperinsulinism / drug therapy
Hyperinsulinism / genetics*
Infant
Male
Point Mutation
Sodium Chloride Symporter Inhibitors / therapeutic use

Substances

Diuretics
Sodium Chloride Symporter Inhibitors
Chlorothiazide
3-Hydroxyacyl CoA Dehydrogenases
Diazoxide