Glycogen Storage Disease Type II

Glycogen storage disease Type II, also known as Pompe disease and Acid maltase deficiency, is a rare autosomal recessive disorder that results from the deficiency of the enzyme acid α-glucosidase (Ibrahim 1). This deficiency results in the accumulation of glycogen in certain organs and tissues, especially muscles, impairing their ability to function normally. The disease is classified by the time of onset: classic infantile onset and non-classic late onset (Van Der Beek 82).

Pompe disease was named after the Dutch pathologist Dr. Johannes Pompe, who presented the first case report in 1932 (Van Der Beek 82). Pompe presented the case of one of his patients who died at the age of 7 months and who presented hypertrophic cardiomyopathy and progressive muscle weaknesses. Pompe observed the accumulation of glycogen in his patient’s tissues, especially in the heart and skeletal muscle (Van Der Beek 82). After several years of study it was discovered that Pompe disease is caused by the deficiency of the enzyme α-glucosidase, and that the disease progresses differently in cases of infantile onset disease than in late onset disease.

Symptoms in classic infantile onset patients usually begin within a few months of birth. Affected infants presented heart defects, enlarged livers, muscle weakness and poor muscle tone. These patients experience feeding and breathing problems, and exhibit lower than normal growth and weight gain (Ibrahim 2). These patients usually die in the first year of life due to cardiopulmonary failure if not treated.

Non-classic or late onset Pompe disease may first present at a variety of ages, ranging from later infancy through adulthood. Juvenile (age six months through childhood) onset disease...

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...Disease).” eMedicine from WebMD

Van Der Beek, N.A.M.E., et al. “Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy.” Acta neurol. Belg. 106 (2006) 82-86

Schoser, 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 Disease.” Health Care Professionals: Genetics & Epidemiology >> Incidence and Prevalence. Web. 20 July 2010. http://www.pompe.com/en/healthcare-professionals/genetics-epidemiology/incidence-prevalence.aspx

Roan, Shari. “Gene Therapy May Improve Pompe Disease Symptom.” Los Angeles Times. 26 January 2010. Web. 20 July 2010. http://latimesblogs.latimes.com/booster_shots/2010/01/pompe-disease-gene-therapy.html