Significance of early diagnosis and treatment of adult late-onset Pompe disease on the effectiveness of enzyme replacement therapy in improving muscle strength and respiratory function: a case report
Early intervention with enzyme replacement therapy plays a crucial role in halting further muscle loss and disease progression in Pompe disease patients. It is important to note that treatment during advanced stages of the disease may not yield substantial benefits. Nevertheless, enzyme instability and denaturation due to temperature and neutral pH levels, along with limited delivery to disease-relevant tissues, can pose challenges in treatment. However, timely diagnosis of Pompe disease is paramount for its effective management and improved outcomes.
Authors
- Moein Mir (ORCID: https://orcid.org/0000-0002-3609-4905)
- Mohammadrafi Damirchi (ORCID: https://orcid.org/0000-0001-8889-5109)
- Sajjad Yazdansetad (ORCID: https://orcid.org/0000-0002-1087-3054)
- Mehrdad Aghaei (ORCID: https://orcid.org/0000-0002-0143-7306)
- Kianmehr Rouhani (ORCID: https://orcid.org/0000-0002-4168-7828)
- Mohammadjavad Hassani (ORCID: https://orcid.org/0000-0003-2558-4850)
- K. Rouhani (ORCID: https://orcid.org/0000-0002-2902-0959)
Institutions
- Imam Hossein University (IR)
- Islamic Azad University, Mashhad (IR)
- Golestan University (IR)
- Golestan University of Medical Sciences (IR)
Publication Details
- Journal
- Journal of Medical Case Reports
- Published
- 2024-10-08
- DOI
- https://doi.org/10.1186/s13256-024-04837-0
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Sanofi
- Golestan University of Medical Sciences