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Pompe (POM-pay) disease, also known as glycogen storage disease type II or acid maltase deficiency, is a rare genetic disorder that results in profound muscle weakness. The disease is caused by mutations in the gene that instructs the body to make an enzyme called acid alpha-glucosidase (GAA).
Symptoms & Signs. As mentioned earlier, the pompe disease can affect infants, children and adults alike. The infants who have this disease will manifest the following symptoms: weakness of the muscles. enlargement of the liver and heart. breathing problems. unable to eat well. dysphagia or swallowing difficulties. enlarge tongue.