A novel mutation in the glutamate dehydrogenase (GLUD1) of a patient with congenital hyperinsulinism-hyperammonemia (HI/HA)

作者：Fang, Chen; Ding, Xin; Huang, Yun; Huang, Jian; Zhao, Pengjun; Hu, Ji^*

来源：Journal of Pediatric Endocrinology & Metabolism, 2016, 29(3): 385-388.

DOI：10.1515/jpem-2015-0276

• diazoxide
• GLUD1
• hyperinsulinism-hyperammonemia (HI/HA)
• missense mutation
• neurodevelopment

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.

• 出版日期2016-3
• 单位复旦大学; 苏州大学