DOI: 10.1002/ccr3.72969 ISSN: 2050-0904
Clinical Report and Genetic Analysis of a Patient With Congenital Hyperinsulinism Hyperammonemia Caused by a Novel Missense Mutation in the Structural Domain of the Isoform of the
GLUD1
Gene
Tingyu Li, Tianyi Liu, Lujuan Li, Yang Liu, Qi Zhang, Xian Cheng, Zhong Li ABSTRACT
The patient presented with severe hypoglycemia and convulsions 43 h after birth. The clinical features were typical, with the presence of obvious hyperinsulinemic hypoglycemia and asymptomatic hyperammonemia, and it was sensitive to the treatment of diazoxide. The diagnosis of HI/HA was confirmed by genetic testing.