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The Journal of pediatrics

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


PMID 15870679

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.