UNDERSTANDING POMPE DISEASE: FROM GENETIC CAUSES TO CUTTING-EDGE THERAPIES

Understanding Pompe Disease: From Genetic Causes to Cutting-Edge Therapies Pompe disease, also referred to as Glycogen Storage Disease Type II, is a rare genetic disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA). This enzyme is essential for breaking down glycogen into glucose, and its absence leads to glycogen accumulat

Pompe disease, a rare genetic disorder caused by a deficiency in the enzyme acid alpha-glucosidase (GAA), poses significant challenges in diagnosis, treatment, and research, particularly in regions like Eastern Europe. The disease leads to severe muscle weakness, respiratory issues, and organ damage, severely impacting patients' quality of life. Wh