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TL;DR
This narrative review summarizes advances in diagnosing and treating late-onset Pompe disease, a multisystem glycogen storage disorder caused by acid alpha-glucosidase deficiency.
Biomolecules · 9 authors, 3 centres
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This narrative review summarizes advances in diagnosing and treating late-onset Pompe disease, a multisystem glycogen storage disorder caused by acid alpha-glucosidase deficiency.
This narrative review provides a comprehensive overview of late-onset Pompe disease (LOPD), an autosomal recessive lysosomal storage disorder caused by GAA gene mutations. The authors discuss the improvement in diagnosis through dried blood spot screening, next-generation sequencing, and muscle MRI. The review emphasizes that ERT should be initiated early when clinical, pathological, or MRI signs of disease appear. Next-generation ERT formulations and gene therapy are discussed as emerging approaches, though gene therapy requires further studies to assess glycogen clearance efficacy across tissues. A multidisciplinary management approach is recommended given the multisystem nature of the disease.