hrp0095p1-446 | Diabetes and Insulin | ESPE2022

Case Report: LRBA deficiency related Monogenic Neonatal Diabetes Mellites

Siddiqui Adeela , Belkhatir Khadidja

Introduction: NDM is a monogenic form of diabetes that occurs in the first 6 months of life. NDM is a rare condition accounting for up to 1 in 400,000 infants in the United States. Recent molecular analysis of NDM identified at least 12 genetic abnormalities: chromosome 6q24, KCNJ11, ABCC8, INS, FOXP3, GCK, IPF1, PTF1A, EIF2AK3, GLUT2, HNF1β, and GLIS3. Of these, imprinting defects on chromosome 6q24 and the KCNJ11 mutation have been recognized as the maj...