Figure 4.

Alglucosidase alfa uptake and metabolism in primary human myoblasts of Pompe patients. (A) Summary of patient information on GAA-mutations, sex, age at biopsy, and the muscle from which the biopsy was taken. (B) GAA activity of Pompe myoblasts untreated (grey) and alglucosidase alfa treated (blue) normalized to mean of controls reveals an excellent improvement of GAA activity after treatment. (C) PAS staining showing glycogen accumulations for patient myoblasts before and after treatment, scale bar 40 µm, with a clear reduction of glycogen in treated patient myoblasts. (D) Basal respiration of Pompe myoblasts untreated (grey) and alglucosidase alfa treated (blue) normalized to untreated. Here a minor increase in basal respiration is found. (E) Glycolysis of Pompe myoblasts untreated (grey) and alglucosidase alfa treated (blue) normalized to untreated shows an improvement after treatment.