hrp0098p3-287 | Late Breaking | ESPE2024

ABCC8 gene mutations: two mirror reflections

Ferreira Madalena , Yang Tong , Câmara Beatriz , Cabral Mafalda , Simões Anabela , Monteiro Arminda , Lopes Lurdes , Galhardo Júlia

Introduction: The ABCC8 gene encodes the SUR1 subunit of the ATP-sensitive potassium channel (K-ATP) in pancreatic beta cells, a key pathway in insulin secretion. Mutations in this gene are associated with neonatal diabetes (ND), and congenital hyperinsulinism (CHI).Description: Cases 1 and 2 Two male monozygotic twins, with no significant medical history, developed persistent non acidotic ketotic hyperg...