Diagnosis of glycogen storage disease

Abstract

Glycogen storage diseases are associated with more than 15 different enzyme deficiencies and can be clinically divided mainly into two groups, those that affect primarily the liver and those that affect principally the muscle. In this report each glycogenosis has been clinically and biochemically documented and possibilities for an accurate and prompt diagnosis of the various types have been summarized. Most of the patients suffering from type II, type III, type IV and type VIa can easily be diagnosed by analysis of peripheral blood cells without the need for tissue biopsies. First trimester diagnosis using chorionic villi is feasible for severe forms of the glycogenoses, type IIa, type IIIa and type IV.