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Fatty acids play an important role in regulating insulin secretion, but the me chanisms are unclear. We report a case of a novel splice site mutation in the sh ort-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) gene associated with hyperi nsulinism. This mutation resulted in a nearly complete absence of immunoreactive protein and a decrease in fibroblast SCHAD activity.
Fatty acids play an important role in regulating insulin secretion, but the me chanisms are unclear. We report a case of a novel splice site mutation in the sh ort-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) gene associated with hyperi nsulinism. This mutation resulted in a nearly complete absence of immunoreactive protein and a decrease in fibroblast SCHAD activity.