Pompe’s disease is characterized by a genetic (inherited) deficiency of an enzyme called acid alpha glucosidase. This enzyme helps the body break down glycogen, a complex carbohydrate that is converted to glucose for energy. Without the enzyme, glycogen builds up in the heart and other muscles, causing extensive damage. The build-up of glycogen causes progressive muscle weakness (myopathy) throughout the body and affects various body tissues, particularly in the heart, skeletal muscles, liver and nervous system.Pompe disease, also known as type 2 glycogen storage disease, is one of several types of glycogen storage disease. The inheritance of Pompe disease is a recessive condition. It is caused by a gene mutation inherited from both parents who are carriers of the gene. The risk to each of their children is 1 in 4 (25%) to have Pompe disease. There are several different forms of Pompe disease which vary in severity. One type is rapidly fatal because it damages the heart and the respiratory muscles that are needed for breathing . Hope this helps you . Take care and regards !
Thanks for your response Dr. Raj. Are you familiar with any patients there in India with this condition?
I am hopeful that the second test will come back showing that I do not have this, but it is still on my mind until the results come in. From what I have read it is a devastating disease.
Thanks again for the information.