Chapter 9 - Animal Models of Glycogen Storage Disorders

Abstract

Glycogen is a polymer of glucose needed to provide for a continuous source of glucose during fasting. Glycogen synthesis and degradation are tightly controlled by complex regulatory mechanisms and any disturbance in this regulation can lead to an inadequate reservoir of glycogen or an accumulation of excess or abnormal glycogen stored either in the cytosol or in the lysosomes. Problems in the degradation or synthesis of glycogen are referred to as glycogen storage disorders (GSDs), which individually are rare diseases, yet collectively are a major category of inborn errors of metabolism in humans. To date, 11 distinct forms of GSDs are represented in animal models. These models provide a means to understand the mechanisms that regulate and execute the synthesis and degradation of glycogen. In this review, we summarize animal models that have arisen spontaneously in nature or have been engineered in the laboratory by recombinant DNA techniques, and categorize the disorders of glycogen metabolism as disorders of either synthesis or degradation.