MP 5.06 Protocol for enzyme replacement therapy in late-onset glycogenosis type II (GSDII)

Glycogenosis type II (GSDII) is an autosomal recessive lysosomal disease caused by a deficiency of alpha-glucosidase. The discovery of the acid alpha-glucosidase gene (GAA) has lead to rapid progress in understanding the molecular basis of GSD II. Three forms of the disease have been described: infantile GSDII results from complete alpha-glucosidase deficiency (Pompe disease), with hypotonia, cardiomegaly; the juvenile form is characterized by onset in the first decade, and cardiac involvement is absent or mild; the adult form of the disease has onset in the 3rd - 6th decade, about 30% of patients present respiratory insufficiency.