Pompe disease is a rare inherited autosomal recessive metabolic disorder caused by the deficiency or complete lack of α-1,4-glucosidase enzyme due to gene mutation that encodes this enzyme (GAA). It is characterized by the aggregation of glycogen in the lysosomes of all cells, especially the muscle, liver, heart, and brain cells. In this graduate thesis the present knowledge of Pompe disease has been presented from available literature. The symptoms of the disease may develop at different ages and with varying rates of occurrence, which largely depends on the nature of the mutation and the degree of residual enzymatic activity. Regardless of the wide clinical spectrum, Pompe disease is characterized by progressive muscular weakness that not only endangers the patient's ability to stand and move alone but also compromises the function of the respiratory system. Three forms of Pompe disease are distinguished: classical infantile, juvenile and adult form. Many techniques are used in the process of diagnosing Pompe disease. The only sure proof of the existence of Pompe disease is the genetic testing and measurement of α-glucosidase activity. Since 2006, an enzyme replacement therapy for the specific treatment of Pompe disease has been available and approved.