ea0035p371 | Diabetes (epidemiology, pathophysiology) | ECE2014
Caldas Ana Rita
, Pereira Teresa
, Tavares Purificacao
, Cardoso Maria Helena
Introduction: Glucokinase-MODY (Maturity onset diabetes of the young) results from heterozygous mutations in the GCK gene, impairing its enzymatic activity. GCK acts as a glucose sensor in the pancreatic beta cell and regulates insulin secretion. We describe two cases of MODY due to a GCK gene mutation not described until now.Clinical Case: A 63-year-old male is followed in our hospital for 30 years due to diabetes mellitus (DM). He was diagnose...