Pompe disease is an autosomal - recessively inherited, lysosomal storage disease which results from a deficient activity of the alpha-glucosidaze enzyme. The enzyme deficiency leads to accumulation of glycogen in cardiac, skeletal, and smooth muscle cells. Depending on the degree of residual enzyme activity and age at onset, the disorder is divided into the infantile, juvenile and adult form. In the infantile-onset form of disease, enzyme activity is lower than 1% and the disease starts to present within the intrauterine period and first days of life. If treatment is not started immediately, it has a fatal outcome by the first year of life. The goal of this study is to highlight the importance of early diagnosis and treatment of the disorder that could provide longer survival and better quality of life to the affected people. It provides recommendations for future research that should be aimed at the best therapy and curing possibilities. Clinical presentation in the infantile - onset form of disease manifests very soon after birth and include heart enlargement, muscle weakness, and respiratory failure. Diagnosis is based on the clinical presentation and enzyme activity assay, and it is confirmed by molecular testing of the GAA gene. Targeted treatment has been possible since the introduction of the recombinant enzyme and it has provided slower progression of the disease and better outcome in affected patients. Enzyme replacement therapy consists of synthesized protein and if patients have a total absence of their own enzyme, they can develop an immune response which results in therapeutic failure. Because of that, patients are divided into groups with or without any residual activity of the enzyme, and group of CRIM (Cross reactive immunological material) positive and CRIM negative patients, respectively. The CRIM negative group requires the immune tolerance induction protocol before ERT induction in order to prevent an immune response to the enzyme therapy.