Glycogen Storage Diseases

Glycogen storage diseases (GSDs) comprise a group of rare inherited disorders caused by dysfunction of the synthesis or degradation of glycogen. Manifestations of GSDs are largely related to their direct effects on liver and/or muscle metabolism. The medical consequences of GSDs directly relate to glycogen's central role in glucose homeostasis. Analyzing this group of disorders has identified most of the enzymes directly related to glycogen metabolism. Recognizing the presence and consequences of GSD is the basis for rational treatment of affected individuals.