Endocrine Abstracts

Introduction: The glycogen storage disease (GSD) is a rare disorder of carbohydrate metabolism resulting from the defective synthesis and utilization of glycogen. GSD-1a is a subtype of GSD caused by a deficiency in glucose-6-phosphatase activity, which leads to decreased conversion of glucose-6-phosphate to glucose. The dominant features at presentation are hypoglycemia and lactic acidemia. Long-term complications include blood glucose lability, lactic acidemia, short stature...