Pompe disease (PD, OMIM #232300), known as glycogen storage disease type II or acid maltase deficiency, is a progressive myopathy with an autosomal recessive mode of inheritance [1,2]. The combined incidence of PD is generally 1 in 40,000 and a higher incidence in certain populations such as African Americans (1/14,000), Northern Europeans of Dutch origin and South East Asians. PD is a lysosomal disorder characterized by a deficiency of acid a-glucosidase (GAA, EC 3.2.1.20) an enzyme that cleaves alpha-1-4 and alpha-1-6 glycosidic bonds of glycogen, maltose and intermediate oligosaccharides within the lysosome.

Read More...

Leave a comment.

Your email address will not be published.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

Andoird App
Loading...