Sažetak sa skupa

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

Sažetak

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.

Ključne riječi

enzyme replacement therapy, Pompe disease

Hrčak ID:

279823

URI

https://hrcak.srce.hr/279823

Datum izdavanja:

27.4.2022.

Posjeta: 556 *