Classic Infantile Pompe disease: Effects of dosing and immunomodulation on long-term outcome

Pompe disease, glycogen storage disease type II (GSD II), glycogenosis type II, and acid maltase deficiency (OMIM #232300) are all names used for the same rare autosomal recessive disease, which is the subject of this thesis. Until recently this was a deadly disease in infants and severely invalidating in children and adults. The development of enzyme replacement therapy (ERT) has brought new prospects for patients and their families.
This thesis will provide information on the historical background of Pompe disease,genetics and inheritance, diagnosis and treatment. The current treatment options are discussed with a specific focus on the effects of enzyme replacement therapy, dosing and immunomodulation, in patients and how these developments have led to the publications in this thesis.