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…
Fibrous Dysplasia is a rare bone disease characterized by areas of abnormal growth or lesions in one or more bones. The skull is usually affected as are the legs, arms and ribs. This disease cannot spread from one bone to another. About 70% of people have only one bone involved. This condition is called monostotic fibrous dysplasia. When fibrous dysplasia is in more than one bone it is called polyostotic fibrous dysplasia (fibrousdysplasia.org). This bone disease replaces normal bone with…