Searchable abstracts of presentations at key conferences in endocrinology

ea0086op4.4 | Metabolism, Obesity and Diabetes | SFEBES2022

iPSC-derived hepatocytes as a novel tool for glycogen storage disease 1A (GSD1A) modelling and drug screening

Nikolaou Nikolaos , Aksoy Melissa , Cheung Ka , Chung Samuel , Heslop James , Gil Carlos , Panman Lia

Glycogen storage disease 1A (GSD1A) is an inherited metabolic disorder caused by glucose-6-phosphatase (G6PC) deficiency. Patients with GSD1A present disturbed glucose homeostasis and exhibit glycogen accumulation accompanied by hepatomegaly, hypoglycemia, lactic acidosis and hyperlipidemia. However, there are currently no licensed treatments for GSD1A, and human in vitro systems for disease modelling and drug screening are lacking. We aimed to develop a human hepatoc...