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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…
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Fabry disease
The Fabry syndrome is an inherited genetic disorder that significantly impacts the quality of life of patients. This condition was first described by a German physician, Johannes Fabry. The underlying pathological process of the disease is due to the deficiency of an important enzyme, alpha-galactosidase. As a result, globotriaosylceramide (GL-3) accumulates in the cells, particularly in the lysosomes, leading to various organ damage. Diagnosis The diagnosis of Fabry syndrome is not always straightforward, especially when classic symptoms do not manifest immediately. Early detection is crucial for successful treatment. Due to the various manifestations of the disease, patients’ anxieties and symptoms encompass a wide spectrum, posing additional challenges during diagnosis. Genetic…
