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.

内容摘要

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.