• Cancer Diseases,  Health Tourism and Prevention

    Pompe disease

    The Pompe disease, also known as type II glycogen storage disease, is an autosomal recessive metabolic disorder that particularly affects muscle tissue and nerve cells. This disease leads to the pathological accumulation of glycogen in the lysosomes, caused by the low activity of the lysosomal acid α-glucosidase enzyme. As a result of Pompe disease, cells are unable to properly break down glycogen, which affects the functioning of various organs. Lysosomes are specialized membrane-bound vesicles found in living cells that contain various enzymes. These enzymes are responsible for the breakdown of different molecules, including lipids, carbohydrates, proteins, and nucleic acids. Due to their acidic environment, lysosomes can effectively carry out degradation…