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Pompe Disease: Understanding Its Causes, Clinical Presentation, and Treatment Evolution
Pompe disease is a rare, inherited metabolic disorder caused by a deficiency of acid alpha-glucosidase, an enzyme that normally breaks down glycogen inside lysosomes. When this enzyme is missing or deficient, glycogen accumulates abnormally in muscle tissue, gradually weakening the heart, skeletal muscles, and respiratory system. Causes and Genetics The disease results from mutations in the GAA...
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