Journal
BIOMOLECULES
Volume 13, Issue 9, Pages -Publisher
MDPI
DOI: 10.3390/biom13091279
Keywords
myopathy; late-onset Pompe disease; multi-system disease; diagnosis; enzyme replacement therapy; chaperone; gene therapy
Categories
Ask authors/readers for more resources
Pompe disease is a genetic disorder caused by mutations in the GAA gene. It can be classified into infantile-onset and late-onset forms. Assessment of acid α-glucosidase activity and enzyme replacement therapy are important for diagnosis and treatment. Novel approaches such as gene therapy are being studied.
Pompe disease (PD) is an autosomal recessive disorder caused by mutations in the GAA gene that lead to a deficiency in the acid alpha-glucosidase enzyme. Two clinical presentations are usually considered, named infantile-onset Pompe disease (IOPD) and late-onset Pompe disease (LOPD), which differ in age of onset, organ involvement, and severity of disease. Assessment of acid alpha-glucosidase activity on a dried blood spot is the first-line screening test, which needs to be confirmed by genetic analysis in case of suspected deficiency. LOPD is a multi-system disease, thus requiring a multidisciplinary approach for efficacious management. Enzyme replacement therapy (ERT), which was introduced over 15 years ago, changes the natural progression of the disease. However, it has limitations, including a reduction in efficacy over time and heterogeneous therapeutic responses among patients. Novel therapeutic approaches, such as gene therapy, are currently under study. We provide a comprehensive review of diagnostic advances in LOPD and a critical discussion about the advantages and limitations of current and future treatments.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available