Pompeho nemoc // SOLEN

Neurológia pre prax 3/2018

Pompeho nemoc

Pompe disease is a rare progressive autosomal recessive disorder caused by deficiency of lysosomal α-glucosidase (GAA; or acid maltase). The awareness of the disease among specialists has risen in the association with the arrival of therapy in the form of applied recombinant enzyme. The aim of this review is to bring the reader some less known aspects of this interesting disease.

Keywords: Pompe disease, enzyme replacement therapy, lysosomal storage disorders