Meeting abstract
https://doi.org/10.26800/LV-144-supl2-CR59
NOT EVERY RESPIRATORY FAILURE NOWDAYS IS COVID. POMPE DISEASE
Dina Gržan
; School of Medicine University of Zagreb
Ivan Pećin
; UHC Zagreb, Department of Internal medicine, Divi- sion of metabolic diseases, Referral centre for rare and metabolic diseases Ministry of health Republic of Cro- atia
Vesna Galjuf
; School of Medicine University of Zagreb
Abstract
Pompe disease, also known as glycogen storage disease type II, is an autosomal recessive disorder caused by deficiency of the lysosomal enzyme acid-α-glucosidase. It is a chronic and progressive disease characterized by storage of glycogen mostly in muscles. Late onset cases typically present with proximal muscle weakness and respiratory insufficiency or exertional dyspnea. Treatment is now available with intravenous infusion of recombinant acid α-glucosidase.
Keywords
enzyme replacement therapy, Pompe disease
Hrčak ID:
279823
URI
Publication date:
27.4.2022.
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