Today, in the United States, it is estimated that 1 out of every 18,702 babies are born with Pompe disease. Pompe disease is also known as Glycogen Storage Disease Type II. It is a rare genetic disease that is autosomal recessive, meaning both parents must be carriers of the mutated gene for a child to be affected.
There are two types of Pompe disease: Infantile (severe) Pompe disease and late onset Pompe disease. Infantile Pompe disease is the most severe form of the disease and symptoms present within the first year of life and progress very quickly. Late onset Pompe disease can present at anytime and is sometimes difficult to diagnose.
Pompe disease occurs when the enzyme acid alpha-glucosidase (GAA) is absent or the body does not produce enough. When the body doesn't produce enough GAA, there is build up of a complex sugar called glycogen in the muscles because the body is not able to break it down. This leads to muscle weakness, cardiomyopathy, liver enlargement, and respiratory failure.