Skeletal muscle glycogenosis: an investigation of two dissimilar cases

Abstract

Glycogen is found in almost every tissue in the body, but is especially abundant in the liver where the content is very variable, and in skeletal muscle where the content is relatively constant except during pro- longed exertion. The regulation of glycogen meta- bolism in these tissues is a matter of delicate equili- brium between a number of enzyme systems, defects in which may cause profound alterations in the amount and structure of the glycogen. The clinical results of such alterations have been known for many years as diseases of glycogen storage, or better, as the glycogenoses. The first cases, affecting liver and kidneys, were recognized by von Gierke in 1929. Since then other types of glycogenosis have been described and elucidated, including some which involve skeletal muscle.