Pompesjúkdómur

Pompesjúkdómur, also known as Pompe disease or glycogen storage disease type II, is a rare, inherited, and progressive neuromuscular disorder. It is caused by a deficiency of the enzyme acid alpha-glucosidase (GAA). This enzyme is responsible for breaking down glycogen, a type of sugar stored in cells for energy. Without sufficient GAA, glycogen accumulates in the lysosomes of various cells, particularly in muscle cells throughout the body.

The accumulation of glycogen damages muscle fibers, leading to progressive muscle weakness and degeneration. The severity and age of onset of Pompe disease vary significantly, leading to its classification into infantile-onset and late-onset forms. Infantile-onset Pompe disease typically appears within the first few months of life and is characterized by severe muscle weakness, feeding difficulties, respiratory problems, and an enlarged heart (cardiomegaly). Without treatment, this form is often fatal within the first year or two of life. Late-onset Pompe disease can manifest at any age, from childhood to adulthood. Symptoms are generally less severe than in the infantile form and may include progressive weakness in the limbs and trunk, difficulty breathing (especially at night), and impaired mobility.

Diagnosis of Pompe disease is typically made through enzyme activity testing, often measuring GAA levels in blood or skin cells, and confirmed with genetic testing. Treatment options include enzyme replacement therapy (ERT), which involves intravenous infusion of a functional GAA enzyme, and supportive care such as physical therapy, respiratory support, and nutritional management. ERT can help slow disease progression and improve muscle function and quality of life for many individuals with Pompe disease.