Eaton S, Chatziandreou I, Krywawych S, Pen S, Clayton P T, Hussain K
Department of Paediatric Surgery, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, U.K.
Biochem Soc Trans. 2003 Dec;31(Pt 6):1137-9. doi: 10.1042/bst0311137.
Hyperinsulinism of infancy is caused by inappropriate insulin secretion in pancreatic beta-cells, even when blood glucose is low. Several molecular defects are known to cause hyperinsulinism of infancy, such as K(ATP) channelopathies and regulatory defects of glucokinase and glutamate dehydrogenase. Although defects of fatty acid oxidation have not previously been known to cause hyperinsulinism, patients with deficiency in SCHAD (short-chain 3-hydroxyacyl-CoA dehydrogenase; an enzyme of mitochondrial beta-oxidation) have hyperinsulinism. A novel link between fatty acid oxidation and insulin secretion may explain hyperinsulinism in these patients.
婴儿期高胰岛素血症是由胰腺β细胞不适当的胰岛素分泌引起的，即使血糖水平较低时也是如此。已知有几种分子缺陷会导致婴儿期高胰岛素血症，如钾离子通道病以及葡萄糖激酶和谷氨酸脱氢酶的调节缺陷。虽然此前尚不知道脂肪酸氧化缺陷会导致高胰岛素血症，但患有短链3-羟基酰基辅酶A脱氢酶（线粒体β氧化的一种酶）缺乏症的患者会出现高胰岛素血症。脂肪酸氧化与胰岛素分泌之间的一种新联系可能解释了这些患者的高胰岛素血症。
