hrp0092p3-281 | Late Breaking Abstracts | ESPE2019

New Autosomal Dominant Mutation in Glucokinase Gene Causing Congenital Hyperinsulinism Diagnosed in Adulthood

Zalmon-Koren Ilana , Peleg Amir , Sagi-Dain Lena , Harari-Shaham Amalia , Larom Gal , Pouker Iulia , Glaser Ben

Introduction: Autosomal dominant congenital hyperinsulinism (CH) is characterized by congenital hypoglycemia due to mutations in any of several genes including the glucokinase (GCK) gene. It is a rare disease with variable clinical symptoms mostly treated medically but in some cases requiring surgical intervention.Aim: We describe herein the clinical presentation and the genetic diagnosis of CH in two generations of an I...