Laura Keehan

A newborn with glycogen storage disease type Ib presenting with hypoglycemia and evidence of mitochondrial dysfunction

Glycogen storage disease type Ib (GSDIb) is an inherited disorder of carbohydrate metabolism that commonly presents in infancy. Here, we describe a case of GSDIb who presented on the first day of life with severe hypoglycemia and lactic acidosis, prompting a broad differential di...