ABSTRACT
Glycogen storage disease (GSD) is a heterogeneous group of genetic disorders characterized by defective glycogen utilization or synthesis. There are several distinct types of GSD affecting liver, muscle, and other tissues. This chapter describes those types of GSD that involve the liver. Classic features of hepatic GSD include fasting hypoglycemia, hepatomegaly and poor growth in children who are undertreated. Hepatic adenomas, renal insufficiency, and poor growth are known complications, but the risk of complications is dramatically reduced in the setting of optimal metabolic control. Definitive diagnosis of GSD previously required a liver biopsy and assay of enzyme activity, but all types can be diagnosed noninvasively. The goal of treatment of all types of GSD is to maintain normal blood glucose levels and minimize the metabolic derangements associated with hypoglycemia. In all types of GSD, complex carbohydrates are preferred over simple sugars to prevent excess glycogen storage.
