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Review Article

Pompe Disease: A Review of the Article

Authors: Ian Caldeira Ruppen* , Haloany Maola Chitolina, Lara Beatriz Dallaqua Bitiati, Clovis Cavalcanti de Albuquerque Neto, Rafaela Beatriz Siqueira, Leandro Hideki Otani, Felicia Satie Ibuki Otani, Gabriel Petermann, Maria Clara Palácio Fachina, Maria Eduarda Dias Stuani, Paschoal Carlos Figueiredo Morelli, Mariane Zancanaro Gallina, Patrícia de Vilhena Pimenta Neves, Marianna de Vilhena Pimenta Neves, Geórgia Verona Cruz, Júlia Alvares Dal’ lago, Amanda Larissa Zotarelli Pasquali, Isabela Viana Veronez, Alana Reigota da Costa Rosa, José Henrique Damas Garcia, Maria Vitória Mendonça and Luana Padovani

Publication Date: 06 December, 2024

DOI: https://doi.org/10.51219/MCCRJ/Ian-Caldeira-Ruppen/155

Citation: Ruppen IC, Chitolina HM, Bitiati LBD, et al., Pompe Disease: A Review of the Article. Medi Clin Case Rep J 2024;2(4):593-594.

Copyright:© 2024 Ruppen IC, et al., This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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Abstract
Pompe disease or glycogen storage disease type ii, is a rare genetic disorder caused by a deficiency of the enzyme acid alpha-glucosidase (gaa), which is responsible for glycogen degradation in lysosomes. The accumulation of glycogen in tissues, particularly cardiac and skeletal muscles, leads to varied clinical manifestations, ranging from severe infantile forms to late-onset variants. Treatment includes enzyme replacement therapy (ert), which improves patient survival and quality of life. However, challenges persist, such as immune responses to ert, limited efficacy in different tissues and difficulties in early diagnosis. This article reviews clinical, diagnostic and therapeutic aspects of pompe disease based on recent literature. 

Keywords: glycogen; enzymes; immunological; acid alpha-glucosidase

Introduction
Pompe disease, first described in 1932 by dutch pathologist johannes pompe, is a lysosomal glycogen storage disorder with autosomal recessive inheritance. Its prevalence ranges from 1:40,000 to 1:300,000 live births1, depending on the population2. The disease manifests in two main clinical spectrums: the classic infantile form, characterized by cardiomegaly and early respiratory insufficiency and the late-onset form (lopd), which predominantly affects skeletal muscles, leading to progressive weakness3. Diagnosing pompe disease is often challenging due to its clinical heterogeneity4. Advances such as enzyme activity testing via mass spectrometry and neonatal screening have contributed to earlier diagnoses5. Despite the benefits of enzyme replacement therapy (ert), challenges like immune response and the need for more targeted treatments remain6.

Objectives
To review and synthesize information on pompe disease, focusing on pathophysiology, clinical manifestations, diagnostic strategies, therapeutic advancements and long-term management challenges.

Materials and methods
A narrative literature review was conducted using the pubmed, scopus and web of science databases. Inclusion criteria considered articles published between 2010 and 2024 in english, portuguese or spanish addressing clinical, molecular, diagnostic and therapeutic aspects of pompe disease.

Discussion
Enzyme replacement therapy has revolutionized the management of pompe disease, particularly in the infantile form7, where early treatment can prevent cardiomyopathy and improve survival8. However, its efficacy in skeletal muscle, especially in late-onset cases, remains limited due to barriers in enzyme transport to these tissues9. Other approaches, such as gene therapy and the use of pharmacological chaperones10, are being explored to overcome these limitations11. Recent studies show the potential of these therapies to correct specific mutations and improve gaa biodistribution12. Furthermore, efforts to enhance early diagnosis, such as neonatal screenings, allow interventions before irreversible symptoms appear13.


On the other hand, challenges such as high variability in disease progression and the elevated costs of treatments highlight the need for more studies to personalize therapeutic approaches and make them accessible14.

Conclusion
Pompe disease remains a model for rare diseases benefiting from advancements in specific therapies. Despite significant progress with ert, clinical and economic challenges persist. Integrating novel therapies, such as gene therapy, alongside early diagnosis through universal screenings, could revolutionize disease management in the coming years. Future research should focus on personalized approaches and strategies to mitigate ert's adverse effects, aiming to improve clinical outcomes and patient quality of life.

References 
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4. schoser b, stewart a, kanters s et al. Survival and long-term outcomes in late-onset pompe disease. Neurology 2017;89(3):239-247.
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