Pompe disease (GSD II)
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
Europe PMC · fetched just now · sorted by publication date
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1
Glycogen and Glycosylation: Friends or Foes?
Konada R, Osborn J, Mitra S. · 2026-06-01
open access unreviewed -
2
Cell Death in Skeletal Muscle Diseases: Diverse Roles and Pathological Processes.
Yang YL, Guo L. · 2026-04-22
open access unreviewed -
3
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 -
4
Metabolic Myopathies and HyperCKemia in Adulthood: A Clinical Approach to Diagnosis and Management
Shakerdi L. · 2026-03-01
open access unreviewed -
5
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 -
6
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 16× open access unreviewed -
7
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 -
8
Long-Term Correction of Murine Glycogen Storage Disease Type III by AAV-Mediated Gene Therapy Using an Immunotolerizing Dual Promoter to Express Bacterial Pullulanase.
Liao KA, Lim JA, Choi SJ, Yi H, Sun B. · 2025-04-17
open access unreviewed -
9
Immune remodulation in pediatric inherited metabolic liver diseases.
Wu YC, Xiang XL, Yong JK, Li M, Li LM, Lv ZC, Zhou Y, Sun XC, Zhang ZJ, Tong H, He XY, Xia Q, Feng H. · 2024-09-01
cited 1× open access unreviewed -
10
Measuring health related quality of life (HRQoL) in Lysosomal Storage Disorders (LSDs): a rapid scoping review of available tools and domains.
McDool E, Powell P, Carlton J. · 2024-07-04
cited 3× open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.