| Inheritance | Autosomal recessive |
| Gene | GAA (Acid Alpha-Glucosidase) located on chromosome 17q25.2 |
| Mutations | Over 200 pathogenic variants identified in the GAA gene |
| Enzyme deficiency | Acid alpha-glucosidase (GAA), which normally breaks down lysosomal glycogen |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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