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

@article{Hussain2005HyperinsulinismOI,
  title={Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene.},
  author={Khalid Hussain and Peter Theodore Clayton and Steve Krywawych and Ilenia Chatziandreou and Phillipa Mills and D W Ginbey and Ans J J M Geboers and R. G. Berger and Inge E T van den Berg and Simon Eaton},
  journal={The Journal of pediatrics},
  year={2005},
  volume={146 5},
  pages={706-8}
}
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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