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 as...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.展开更多
文摘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.
