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Janeczko Dominika, Orzeł Anna, Klatka Barbara, Hołowczuk Magdalena, Szlichta Grzegorz. Current pharmacotherapy and diagnostic methods of Pompe Disease in Poland. Journal of Education, Health and Sport. 2019;9(9):703-707. eISNN 2391-8306. DOI http://dx.doi.org/10.5281/zenodo.3457463 http://ojs.ukw.edu.pl/index.php/johs/article/view/7491 The journal has had 5 points in Ministry of Science and Higher Education parametric evaluation. § 8. 2) and § 12. 1. 2) 22.02.2019. © The Authors 2019; This article is published with open access at Licensee Open Journal Systems of Kazimierz Wielki University in Bydgoszcz, Poland Open Access. This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author (s) and source are credited. This is an open access article licensed under the terms of the Creative Commons Attribution Non commercial license Share alike. (http://creativecommons.org/licenses/by-nc-sa/4.0/) which permits unrestricted, non commercial use, distribution and reproduction in any medium, provided the work is properly cited. The authors declare that there is no conflict of interests regarding the publication of this paper. Received: 10.09.2019. Revised: 19.09.2019. Accepted: 22.09.2019. Current pharmacotherapy and diagnostic methods of Pompe Disease in Poland Dominika Janeczko, Anna Orzeł, Barbara Klatka, Magdalena Hołowczuk, Grzegorz Szlichta Students’ Research Group at the Department of Epidemiology and Methodology of Clinical Research, Medical University of Lublin Abstract: Pompe disease is estimated to happen in 1 out of 40000 borns. It is rare metabolic disease connected to autosomal recessive genetic mutation. Disease is characterised by deficit of α-glucosidase (GAA) which is lysosomal glycogen hydrolizing enzyme acid. Decreased activity of enzyme leads to glycogen storage in lysosomes which appears as disfunction of tissues, especially cardiac muscle and skeletal muscles. In Poland, we have two common and very simple methods to diagnose Pompe disease. First test is dried blood spot (DBS), second is full peripheral blood test. Currently, in Poland, drug containing alglucosidase alpha is refunded. Drug is available as powder for infusion. Periodic assessment of therapy effectiveness is performed at least every 6 months based on rating the patient's clinical condition and assessment of the effectiveness of the therapy used. Keywords: Pompe disease, alglucosidade alpha, chromosome 17, glycogen storage disease type ii &nbsp