Pompe disease – a rare glycogen storage disease

Pompeova bolest (PB) je autosomno recesivni poremećaj uzrokovan nedostatnošću alfa glukozidaze (lizosomskog enzima) koji oslobađa glukozu iz glikogena. U dojenačkoj dobi (rani oblik PB-a) nedostatak enzima je potpun, uzrokujući vrlo tešku kliničku sliku izrazite mišićne slabosti, hipertrofične kardiomiopatije, hepatomegalije i makroglosije. U djece, adolescenata i odraslih (kasni oblik PB-a) nedostatak enzima je djelomičan. Ovi pacijenti imaju manje izraženu mišićnu slabost, većinom u nogama, nemaju kardiomiopatiju, imaju česte respiratorne probleme zbog slabosti dijafragme i respiratornih mišića. Godine 2006. institucije Europe i SAD-a (EMEA i FDA) odobrile su uporabu enzimske zamjenske terapije u pacijenata s ranim i kasnim oblikom PB-a.Pompe disease (PD, autosomal recessive disorder) is caused by deficient activity of lysosomal alfa glucosidase enzyme (releases glucose from glycogen). A complete deficit in infants (early onset PD) leads to a severe clinical presentation with extreme muscle weakness, hypertrophic cardiomyopathy, hepatomegaly and macroglossia. Partial deficiency in children, adolescent and adults (later onset PD), leads to less prominent muscle weakness (mostly legs) and cardiomyopathy is rare, but respiratory problems due to diaphragmatic and respiratory muscle weakness are often. In 2006, the European and US authorities (EMEA and FDA) approved the application of enzyme replacement therapy for early and late onset PD