A novel mutation in the glutamate dehydrogenase (GLUD1) of a patient with congenital hyperinsulinism-hyperammonemia (HI/HA)
A novel mutation in the glutamate dehydrogenase (GLUD1) of a patient with congenital hyperinsulinism-hyperammonemia (HI/HA)
复制标题
先天性高胰岛素血症-高氨血症 (HI/HA) 患者谷氨酸脱氢酶 (GLUD1) 的新突变
DOI：
10.1515/jpem-2015-0276
复制
发表时间：
2016-03-01
影响因子：
1.4
通讯作者：
Hu, Ji
中科院分区：
文献类型：
--
作者：
Fang, Chen;Ding, Xin;Hu, Ji
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（CHI）的第二大常见病因，常表现为反复发作的症状性低血糖和持续性高氨血症。在这里，我们报告了一个正常的出生体重，反复癫痫发作，无法治疗的低血糖症，持续性，轻度高血氨症的患者。遗传学诊断显示，患者携带谷氨酸脱氢酶1基因（GLUD 1）中的杂合、从头错义突变（N410 I，c.1401A > T）。患者接受二氮嗪治疗，显著缓解了低血糖。不同发育阶段的CT和MRI脑部扫描显示前叶有大规模脑损伤。严重的神经发育缺陷被确定在后续行动。
Hyperinsulinism-hyperammonemia (HI/HA) syndrome, often characterized by recurrent symptomatic hypoglycemia and persistent hyperammonemia, is the second most frequent cause of the congenital hyperinsulinism (CHI). Here, we reported a patient with normal birth weight, repeated seizures, untreatable hypoglycemia, and persistent, mild hyperammonemia. The genetic diagnosis revealed that the patient carried a heterozygous, de novo missense mutation (N410I, c.1401A > T) in the glutamate dehydrogenase 1 gene (GLUD1). The patient was treated with diazoxide, which significantly alleviated the hypoglycemia. CT and MRI brain scanning at different developmental stages revealed large-scale brain damage in the front lobe. Severe neurodevelopment deficits were identified in the follow-up.