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Glycogen Accumulation Disease Type II (GSD II, OMIM232300), also known as Pompe disease, is a rare hereditary due to a genetic defect in the GAA gene encoding acid alpha glucosidase (GAA) in the lysosome, that is, acid maltase Metabolic myopathy
.
The deficiency of GAA enzyme activity leads to glycogen in the lysosome cannot be effectively degraded and deposited in skeletal muscle, myocardium, liver and other tissues and organs, thus causing corresponding clinical manifestations
This disease is the first reported lysosomal storage disease, and it is also the only glycogen storage disease known to be a lysosomal storage disease
Diagnosis flowchart of late-onset Pompe disease in adults
Adult late onset Pompe disease diagnosis flowchart diagnosis flowchart adult late-onset Pompe disease in this message
