POMPEHO CHOROBA – LIEČITEĽNÁ MYOPATIA
- Centrum pre neuromuskulárne ochorenia, Neurologická klinika SZU, FNsP Bratislava-Ružinov
Definícia a charakteristika ochorenia Pompeho choroba alebo glykogenóza typ 2 je dedičné metabolické ochorenie s autozómovo recesívnym typom dedičnosti. Príčinou ochorenia je generalizovaný deficit lyzozomálneho enzýmu kyslej maltázy alebo alfa-glukozidázy. Štrukturálny gén pre alfa-glukozidázu bol lokalizovaný na chromozóme 17q23. Chýbanie enzýmu vedie k hromadeniu glykogénu v lyzozómoch všetkých tkanív, ale najmä v priečne pruhovanom svalstve a v myokarde. Hoci porucha je spôsobená jediným ubikvitárnym enzýmom, prejavuje sa veľmi variabilným priebehom – od ťažkého rýchlo progredujúceho postihnutia novorodencov, dojčiat až po postupné postihnutie s manifestáciou v dospelosti.
Published: January 1, 2009 Show citation
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