Current pharmacotherapy and diagnostic methods of Pompe Disease in Poland
Pompe disease is estimated to happen in 1 out of 40 000 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 glycoge...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Kazimierz Wielki University
2019-09-01
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| Series: | Journal of Education, Health and Sport |
| Subjects: | |
| Online Access: | http://www.ojs.ukw.edu.pl/index.php/johs/article/view/7491 |
| _version_ | 1818116280668913664 |
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| author | Dominika Anna Janeczko Anna Orzeł Barbara Klatka Magdalena Hołowczuk Grzegorz Szlichta |
| author_facet | Dominika Anna Janeczko Anna Orzeł Barbara Klatka Magdalena Hołowczuk Grzegorz Szlichta |
| author_sort | Dominika Anna Janeczko |
| collection | DOAJ |
| description | Pompe disease is estimated to happen in 1 out of 40 000 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. |
| first_indexed | 2024-12-11T04:20:01Z |
| format | Article |
| id | doaj.art-b09790c8669d4ab691b778788219f7bc |
| institution | Directory Open Access Journal |
| issn | 2391-8306 |
| language | English |
| last_indexed | 2024-12-11T04:20:01Z |
| publishDate | 2019-09-01 |
| publisher | Kazimierz Wielki University |
| record_format | Article |
| series | Journal of Education, Health and Sport |
| spelling | doaj.art-b09790c8669d4ab691b778788219f7bc2022-12-22T01:21:09ZengKazimierz Wielki UniversityJournal of Education, Health and Sport2391-83062019-09-019970370710.5281/zenodo.34574636588Current pharmacotherapy and diagnostic methods of Pompe Disease in PolandDominika Anna Janeczko0Anna Orzeł1Barbara Klatka2Magdalena Hołowczuk3Grzegorz Szlichta4Students’ Research Group at the Department of Epidemiology and Methodology of Clinical Research, Medical University of LublinStudents’ Research Group at the Department of Epidemiology and Methodology of Clinical Research, Medical University of LublinStudents’ Research Group at the Department of Epidemiology and Methodology of Clinical Research, Medical University of LublinStudents’ Research Group at the Department of Epidemiology and Methodology of Clinical Research, Medical University of LublinStudents’ Research Group at the Department of Epidemiology and Methodology of Clinical Research, Medical University of LublinPompe disease is estimated to happen in 1 out of 40 000 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.http://www.ojs.ukw.edu.pl/index.php/johs/article/view/7491pompe diseasealglucosidade alphachromosome 17glycogen storage disease type ii |
| spellingShingle | Dominika Anna Janeczko Anna Orzeł Barbara Klatka Magdalena Hołowczuk Grzegorz Szlichta Current pharmacotherapy and diagnostic methods of Pompe Disease in Poland Journal of Education, Health and Sport pompe disease alglucosidade alpha chromosome 17 glycogen storage disease type ii |
| title | Current pharmacotherapy and diagnostic methods of Pompe Disease in Poland |
| title_full | Current pharmacotherapy and diagnostic methods of Pompe Disease in Poland |
| title_fullStr | Current pharmacotherapy and diagnostic methods of Pompe Disease in Poland |
| title_full_unstemmed | Current pharmacotherapy and diagnostic methods of Pompe Disease in Poland |
| title_short | Current pharmacotherapy and diagnostic methods of Pompe Disease in Poland |
| title_sort | current pharmacotherapy and diagnostic methods of pompe disease in poland |
| topic | pompe disease alglucosidade alpha chromosome 17 glycogen storage disease type ii |
| url | http://www.ojs.ukw.edu.pl/index.php/johs/article/view/7491 |
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