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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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Europe PMC · fetched just now · sorted by publication date

  1. 1
    Autolysosomal enhancer GHF201 attenuates pathophysiology in a mucopolysaccharidosis type I mouse model

    · 2026-10-06

    open access unreviewed
  2. 2
    Autophagy-Lysosomal Dysfunction as a Converging Mechanism of Cardiomyopathy in Lysosomal Storage Disorders: From Pathobiology to Targeted Therapy.

    Lee CL, Chuang CK, Chang YH, Chiu HC, Tu YR, Lo YT, Wu JY, Lin HY, Lin SP. · 2026-07-19

    open access unreviewed
  3. 3
    Abstracts of the 19th International Congress on Neuromuscular Diseases 7th – 11th July 2026

    · 2026-06-14

    open access unreviewed
  4. 4
    Glycogen and Glycosylation: Friends or Foes?

    Konada RSR, Osborn J, Mitra S. · 2026-06-16

    open access unreviewed
  5. 5
    Cell Death in Skeletal Muscle Diseases: Diverse Roles and Pathological Processes.

    Yang YL, Guo L. · 2026-04-22

    cited 1× open access unreviewed
  6. 6
    Genetic Mutations Underlying Growth Impairment and Cardiomyopathies in Children: Molecular Mechanisms, Clinical Implications and Targeted Therapies.

    Dicorato MM, De Sario G, Carella MC, Guaricci AI, Ciccone MM, Forleo C, D'Amato G, Faienza MF. · 2026-03-23

    open access unreviewed
  7. 7
    Metabolic Myopathies and HyperCKemia in Adulthood: A Clinical Approach to Diagnosis and Management.

    Shakerdi LA. · 2026-03-09

    cited 1× open access unreviewed
  8. 8
    α-Glucosidase-driven metabolism as a potential therapeutic vulnerability in <i>Candida albicans</i>.

    Mitra J, Sajeevan A, Sujith S, Paramasivam S, Shanmugam K, Solomon AP. · 2026-04-13

    open access unreviewed
  9. 9
    Prevalence and incidence rates of 17 neuromuscular disorders: An updated review of the literature.

    Deenen JC, Verbeek AL, Verschuuren JJ, van Engelen BG, Voermans NC. · 2025-03-04

    cited 22× open access unreviewed
  10. 10
    Integrative Approaches to Myopathies and Muscular Dystrophies: Molecular Mechanisms, Diagnostics, and Future Therapies.

    Ziemian M, Szmydtka J, Snoch W, Milner S, Wojciechowski S, Dłuszczakowska A, Chojnowski JW, Pallach Z, Żamojd… · 2025-08-18

    cited 2× open access unreviewed

External claims. These come from an index outside this database and are not checked against it. Treat them as leads.