Inborn Errors of Metabolism with Hypoglycemia: Glycogen Storage Diseases and Inherited Disorders of Gluconeogenesis

Abstract

Although hyperinsulinism is the predominant inherited cause of hypoglycemia in the newborn period, inborn errors of metabolism are the primary etiologies after 1 month of age. Disorders of carbohydrate metabolism often present with hypoglycemia when fasting occurs. The presentation, diagnosis, and management of the hepatic glycogen storage diseases and disorders of gluconeogenesis are reviewed.

Keywords: Disorders of gluconeogenesis; Glycogen storage disease; Hypoglycemia; Ketosis; Ketotic hypoglycemia; Lactate.