Synonyms: glycogen storage disease type II; acid maltase deficiency
Pompe disease is a glycogen storage disorder. It is a severe metabolic myopathy, caused by mutations in the gene coding for the enzyme alpha-1,4-glucosidase (GAA), which breaks down glycogen in the lysosomes.
This is a companion discussion topic for the original article at https://patient.info/doctor/paediatrics/pompes-glycogen-storage-disease