Glycogen storage disease type II, also known as Pompe disease and acid maltase deficiency, is a rare autosomal recessive disorder that results from a deficiency of the acid enzyme α-glucosidase (Ibrahim 1). This deficiency results in an accumulation of glycogen in certain organs and tissues, particularly muscles, impairing their ability to function normally. The disease is classified according to the time of its onset: classic infantile onset and non-classical late onset (Van Der Beek 82). Pompe disease is named after the Dutch pathologist Dr. Johannes Pompe, who presented the first case report in 1932 (Van Der Beek 82). Beck 82). Pompe presented the case of one of his patients who died at the age of 7 months and who presented with hypertrophic cardiomyopathy and progressive muscle weakness. Pompe observed the accumulation of glycogen in his patient's tissues, particularly in the heart and skeletal muscles (Van Der Beek 82). After several years of study, it was discovered that Pompe disease is caused by a deficiency of the enzyme α-glucosidase and that the disease progresses differently in childhood or later life. a few months after his birth. Affected infants had heart defects, enlarged livers, muscle weakness, and low muscle tone. These patients experience feeding and breathing problems, and exhibit subnormal growth and weight gain (Ibrahim 2). These patients usually die within the first year of life due to cardiopulmonary failure if left untreated. Non-classical or late-onset Pompe disease can present at different ages, from infancy to adulthood. Juvenile illness (at age six months to childhood)...... middle of paper...... Illness). eMedicine from WebMDVan Der Beek, NAME, et al. “Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy.” Acta neurol. Belgian. 106 (2006) 82-86Schoser, Benedikt, Hill, Victoria and Raben, Nina. “Therapeutic approaches in glycogen storage disease type II/Pompe disease”. Neurotherapeutics: The Journal of the American Society for Experimental NeuroTherapeutics 5 (October 2008) 569-578. “Pompe’s disease”. Health professionals: genetics and epidemiology >> Incidence and prevalence. Internet. July 20, 2010. http://www.pompe.com/en/healthcare-professionals/genetics-epidemiology/incidence-prevalence.aspxRoan, Shari. “Gene therapy may improve Pompe disease symptoms.” Los Angeles Times. January 26, 2010. the web. July 20, 2010. http://latimesblogs.latimes.com/booster_shots/2010/01/pompe-disease-gene-therapy.html