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

Key Points

• To report a case of congenital hyperinsulinism and hyperammonemia caused by a novel mutation in the GLUD1 gene.
• Clinical assessment of severe hypoglycemia and convulsions
• Treatment with diazoxide
• Genetic testing for mutation identification.
• Patient exhibited severe hypoglycemia and convulsions 43 hours after birth.
• Diagnosis confirmed via genetic testing showing a novel missense mutation in the GLUD1 gene.
• Patient responded positively to diazoxide treatment.