glycogenosis type 2
MIM.232300 17q25.2-q25.3
GSD2, Pompe disease
Glycogen storage disease type 2 (GSD2) is caused by mutation in the gene encoding acid alpha-1,4-glucosidase (GAA) (MIM.606800), which has been mapped to chromosome 17.
Glycogen storage disease II is an autosomal recessive disorder and is the prototype of lysosomal storage diseases (LSDs).
In the classic infantile form (Pompe disease), cardiomyopathy and muscular hypotonia are the cardinal features.
In the juvenile and adult forms, involvement of skeletal muscles dominates the clinical picture.