What is Pompe Disease?

Have you heard about this disease before? Pompe  disease, also known as glycogen storage disease type II or acid maltase deficiency, is a rare genetic disorder that results in profound muscle weakness. For the people who are getting this disease, their muscles are not working properly like usual people. The disease is caused by mutations in the gene that instructs the body to make an enzyme called acid alpha-glucosidase (GAA). Normally, the body uses this enzyme to break down glycogen (stored sugar) into glucose (sugar). But in Pompe disease, GAA is absent or significantly reduced, causing excessive amounts of glycogen to accumulate in the body’s tissues, which results in major damage. The heart and skeletal muscles are most affected. Pompe disease is an auto-somatic recessive condition — meaning that each parent of an affected individual must pass on a copy of the mutated gene. This is part of the reason that the disease is relatively rare, affecting one in 40,000 people. With the compare value, only small number of people who are affected with this disease. Glycogen normally stay in our muscles that is why when we lose glycogen in mass amount our muscle will not working as well as usual. It is very dangerous thing we always avoid.