Glycogen Storage Disease Type III (Glycogen Debranching Enzyme Deficiency): Correlation of Biochemical Defects with Myopathy and Cardiomyopathy

Clinical features of glycogen storage disease type III correlate with the particular biochemical defect seen with the disorder. Assessments of debranching enzyme or debranching enzyme transferase activity in muscle can be used to predict whether patients with glycogen storage disease type III will develop myopathy and cardiomyopathy.