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首页> 外文期刊>Reviews in Endocrine & Metabolic Disorders >The hyperinsulinism/hyperammonemia syndrome
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The hyperinsulinism/hyperammonemia syndrome

机译：高胰岛素血症/高氨血症综合征

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The hyperinsulinism/hyperammonemia (HI/HA) syndrome is the second most common form of congenital hyperinsulinism (HI). Children affected by this syndrome have both fasting and protein sensitive hypoglycemia combined with persistently elevated ammonia levels. Gain of function mutations in the mitochondrial enzyme glutamate dehydrogenase (GDH) are responsible for the HI/HA syndrome. GDH is expressed in liver, kidney, brain, and pancreatic beta-cells. Patients with the HI/HA syndrome have an increased frequency of generalized seizures, especially absence-type seizures, in the absence of hypoglycemia. The hypoglycemia of the HI/HA syndrome is well controlled with diazoxide, a KATP channel agonist. GDH has also been implicated in another form of HI, short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) deficiency associated HI. The HI/HA syndrome provides a rare example of an inborn error of intermediary metabolism in which the effect of the mutation on enzyme activity is a gain of function.
机译：高胰岛素血症/高氨血症（HI / HA）综合征是先天性高胰岛素血症（HI）的第二种最常见形式。受此综合征影响的儿童既有禁食和蛋白质敏感性低血糖症，又有持续升高的氨水平。线粒体酶谷氨酸脱氢酶（GDH）中功能突变的增加是HI / HA综合征的原因。 GDH在肝，肾，脑和胰腺β细胞中表达。在没有低血糖的情况下，HI / HA综合征患者的全身性癫痫发作频率增加，尤其是缺乏型癫痫发作。 HI / HA综合征的低血糖可以通过KATP通道激动剂diazoxide很好地控制。 GDH还与HI的另一种形式有关，即短链3-羟酰基辅酶A脱氢酶（SCHAD）缺乏相关的HI。 HI / HA综合征提供了一个罕见的中间代谢先天性错误的例子，其中突变对酶活性的影响是功能的获得。

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