OBJECTIVES: The objective of this review is to estimate the direct and indirect costs of Pompe disease. METHODS: Direct and indirect cots were estimated based on a questionnaire (consisting of 108 questions) measuring costs specific for Pompe disease and a survey concerning the enzyme replacement therapy created for the research. The direct costs of Pompe disease were estimated from the patient`s social and the public health care system payer (National Health Fund) perspectives. While estimating indirect costs human capital approach methodology was used taking into consideration absence from work due to the illness, lost time and salaries of the members of the family taking care of the patients. The analysis was done in a 2-year time span. RESULTS: In the research 80% of Pompe disease population were studied (N=16). Indirect costs constituted 3% of the total cost (€17,959,67 per patient in the period of 2 years). The highest component of the amount was the cost of the income lost by the members of the families taking care of the patients; 96% of the total direct costs were the direct medical costs (€550,975.03 per patient in the period of 2 years). The main direct medical cost determinant is the enzyme therapy (€543,350.47)-constituting 99% of the total direct medical costs. CONCLUSIONS: Providing patients with the prompt access to the enzyme replacement therapy result in lowering future indirect and direct costs: smaller number of patients taking disability pension, lower cost of medical equipment used by patients and higher productivity of patients able to work. Additionally there is a need to introduce an unusual and untypical approach in Health Technology Assessment.