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

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

Khalid Hussain  1 , 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
Affiliations
Case Reports

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

Khalid Hussain et al. J Pediatr. 2005 May.

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.

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