Pompe disease
Overview The authors describe the clinical, pathological, biochemical, and molecular features of Pompe disease, which is a heterogeneous glycogen storage disease. Tremendous advances in infantile Pompe disease have occurred since the development of enzyme replacement therapy--the first FDA-approved treatment for this otherwise lethal disorder. Therapeutic success has subsequently been noted in both infantile and late-onset Pompe disease; those who begin enzyme replacement therapy earlier in the course of disease progression tend to respond better to treatment. However, there are new emerging phenotypes among the survivors of Pompe disease, and therapies must be improved. With the continued development of novel therapies and newborn screening programs, advancements in the management of Pompe disease continue to push the boundaries of modern medicine.
