Pompe's disease, glycogen-storage disease type II, and acid maltase deficiency are alternative names for the same metabolic disorder. It is a pan-ethnic autosomal recessive trait characterised by acid α-glucosidase deficiency leading to lysosomal glycogen storage. Pompe's disease is also regarded as a muscular disorder, but the generalised storage of glycogen causes more than mobility and respiratory problems. The clinical spectrum is continuous and broad. First symptoms can present in infants, children, and adults. Cardiac hypertrophy is a key feature of classic infantile Pompe's disease. For a long time, there was no means to stop disease progression, but the approval of enzyme replacement therapy has substantially changed the prospects for patients. With this new development, the disease is now among the small but increasing number of lysosomal storage disorders, for which treatment has become a reality. This review is meant to raise general awareness, to present and discuss the latest insights in disease pathophysiology, and to draw attention to new developments about diagnosis and care. We also discuss the developments that led to the approval of enzyme replacement therapy with recombinant human α-glucosidase from Chinese hamster ovary cells (alglucosidase alfa) by the US Food and Drug Administration and European Medicines Agency in 2006, and review clinical practice.

autosomal recessive inheritance, clinical feature, diagnostic procedure, diagnostic test, disease course, enzyme replacement, genotype, glucan 1, 4 alpha glucosidase, glycogen storage disease type 2, heart ventricle hypertrophy, human, lysosome storage disease, mannose 6 phosphate, muscle disease, nonhuman, pathophysiology, patient care, priority journal, recombinant glucan 1, 4 alpha glucosidase, review, treatment outcome
dx.doi.org/10.1016/S0140-6736(08)61555-X, hdl.handle.net/1765/14637
The Lancet
Erasmus MC: University Medical Center Rotterdam

van der Ploeg, A.T, & Reuser, A.J.J. (2008). Pompe's disease. The Lancet (Vol. 372, pp. 1342–1353). doi:10.1016/S0140-6736(08)61555-X