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Pompe Disease Treatment: Advancements and Approaches
Pompe disease, also known as glycogen storage disease type II, is a rare genetic disorder caused by the deficiency of the enzyme acid alpha-glucosidase (GAA). This enzyme is essential for breaking down glycogen, a stored form of sugar, into usable energy. Without it, glycogen accumulates in muscles and organs, leading to progressive muscle weakness, respiratory difficulties, and in severe cases, heart complications. The condition affects both infants and adults, with infantile-onset Pompe disease being more aggressive.
Treating Pompe disease focuses on slowing disease progression, improving muscle function, and enhancing quality of life. Recent advances in medical science have transformed the landscape, providing hope for patients and caregivers.
Enzyme Replacement Therapy (ERT)
Enzyme Replacement Therapy is currently the cornerstone of Pompe disease treatment. This therapy involves administering recombinant human GAA (rhGAA) to replace the deficient enzyme. ERT has been shown to reduce glycogen buildup in…