Glycogenosis Type II, commonly known as Pompe disease, is a rare genetic disorder characterized by the deficiency or absence of an enzyme called acid alpha-glucosidase (GAA). This enzyme is responsible for breaking down glycogen, a stored form of sugar, into glucose, which is used as an energy source for cells.
Individuals with Glycogenosis Type II experience the accumulation of glycogen in various tissues throughout the body, particularly in muscles and organs such as the heart, liver, and skeletal muscles. This excessive buildup of glycogen disrupts normal cellular functions and leads to progressive muscle weakness, respiratory difficulties, and other symptoms.
Symptoms of Glycogenosis Type II may present during infancy or later in childhood or adulthood, and the severity can vary widely among affected individuals. Common manifestations include muscle weakness, delayed motor development, respiratory problems, cardiomegaly (enlarged heart), and impaired cardiac function.
Diagnosis of Glycogenosis Type II often involves a thorough clinical evaluation, including physical examination, family history assessment, and laboratory tests to determine the levels of GAA enzyme activity. Further confirmation is obtained through genetic testing, which identifies specific mutations in the GAA gene.
Management of Glycogenosis Type II typically involves a multidisciplinary approach, including supportive care, physical therapy, and respiratory support as needed. Enzyme replacement therapy (ERT) is a primary treatment option, which involves regular intravenous infusions of recombinant human GAA to replace the deficient enzyme.
Overall, Glycogenosis Type II is a rare genetic disorder characterized by the deficiency of acid alpha-glucosidase enzyme, leading to the accumulation of glycogen in tissues and causing progressive muscle weakness and other symptoms.
