Summary
Pompe's disease is a rare disorder of glycogen metabolism resulting in a myopathy. It occurs in a very severe infantile form resulting from severe acid α-glucosidase enzyme deficiency as well as a later onset form resulting from less severe enzyme deficiency, and of variable severity largely depending on the degree of enzyme deficiency. Enzyme replacement therapy markedly improves the manifestations of the disease in the infantile form, and stabilizes, or perhaps slightly improves, the late-onset form of the disease. Despite the availability of specific enzyme replacement therapy, patients benefit from supportive care delivered by a multidisciplinary team.