Glycogen storage disease

**Definition:** The term Glycogen storage disease characterises a group of heterogeneous diseases resulting from defects in the process of glycogen synthesis or breakdown within muscles, liver, and other cell types.

**Inclusions:** - Glycogen storage disease due to LAMP-2 deficiency - Glycogen storage disease due to glycogen debranching enzyme deficiency - Glycogen storage disease due to muscle glycogen phosphorylase deficiency - Glycogen storage disease due to liver glycogen phosphorylase deficiency - Glycogen storage disease due to GLUT2 deficiency - Glycogen storage disease due to aldolase A deficiency - Glycogen storage disease due to muscle beta-enolase deficiency - Glycogen storage disease due to phosphoglucomutase deficiency - Glycogen storage disease due to glycogenin deficiency - Glycogen storage disease due to phosphoglycerate kinase 1 deficiency - Glycogen storage disease due to lactate dehydrogenase deficiency - Glycogen storage disease due to muscle pyruvate kinase deficiency - Dilated cardiomyopathy due to glycogen branching enzyme deficiency