Pompe Disease Research Paper

Pompe disease is a rare, inherited, genetic disorder. The disorder is a result of a malfunctioning enzyme that does not properly break down glycogen in the body’s cells. As a result, glycogen builds up in the organs and muscles impairing their function.
Pompe disease can be directly linked to mutations in the GAA gene. The GAA gene aids in the production of the enzyme, acid maltase, which is found in the lysosomes. Lysosomes act as a the recycling center for the cell and acid maltase’s job is to break down glycogen into the simple sugar, glucose. Pompe disease occurs when the mutated GAA gene prevents acid maltase from breaking down the glycogen. As a result, a the glycogen builds up to a toxic level in lysosomes. The build up damages organs and muscle cells preventing them from working properly. …show more content…
The first type is the non-classic form of infantile-onset Pompe disease. Infants with the non-classic form have delayed basic skills and muscle weakness. The muscle weakness leads to serious breathing problems, and as a result most children with the non-classic form live only into early childhood. The common form of infantile-onset Pompe disease starts within a few months of birth. Children with this disorder usually struggle with muscle weakness, an enlarged liver and heart. If not treated properly, an infant will die of heart failure within their first year of life. The mildest type of Pompe disease is the late onset type. This version of the disease usually does not reveal itself until late childhood, or even adulthood. Symptoms include weakness in the legs, body and respiratory muscles. As the disease progresses, many suffer respiratory