Pompe disease, also known as glycogen storage disease type II or acid maltase deficiency, is a progressive, rare autosomal recessive disorder caused by mutations in the gene that encodes acid α-glucosidase (GAA). Deficiency of lysosomal GAA, an enzyme required for lysosomal glycogen degradation, results in an accumulation of lysosomal and eventually cytoplasmic glycogen [1-3]. Accumulation of glycogen in the lysosome results in lysosomal swelling and rupture [4]. Pompe disease exists as a spectrum of phenotypes, and is often classified by age and symptoms at onset.

Read More...

Leave a comment.

Your email address will not be published. Required fields are marked*

Andoird App
Loading...