ea0067gp40 | Poster Presentations | EYES2019
Skarakis Nikitas S
, Kanaka-Gantenbein Christina
, Dimopoulou Dimitra
, Sertedaki2 Amalia
, Karachaliou Feneli
Background: Congenital Hyperinsulinism (CH) or, as previously named, Hyperinsulinemic Hypoglycemia (HH), constitutes a major cause of persistent and recurrent hypoglycemia, especially in the neonatal period, showing notable phenotypical heterogeneity among affected subjects. Mutations in genes implicated in insulin release, represent the majority of the cases of CH. Activating mutations of the Glucokinase gene (GCK) are responsible for mild forms of hypoglycemia usual...