GAA AR unreviewed
Pompe disease (GSD II)
Lysosomal glycogen degradation
Enzyme or protein defect
Acid alpha-glucosidase
Accumulates or becomes deficient
Lysosomal glycogen
Key features
Cardiomegaly, hypotonia, early death in infantile form
Management
Enzyme replacement (alglucosidase alfa)
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
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