Medicine Baby Quiz | What is the effective treatment for Pompe disease?

Medicine Baby Analysis

Pompe disease, also known as glycogen storage disease type II, is a rare autosomal recessive genetic disease caused by the lack of acid α-glucosidase (GAA). Due to GAA gene mutation, the enzyme activity is reduced or lacks. Glycogen cannot be degraded and is stored in the lysosomes of skeletal muscle, myocardial and smooth muscle cells, leading to lysosomal swelling, cell destruction and organ damage.

Pompe disease is one of the few genetic diseases with effective treatments. The main treatments currently include enzyme replacement therapy (ERT) and symptomatic supportive care. ERT treatment uses α-recombinant alglucosidase (rhGAA), which can improve myocardial and skeletal muscle function, as well as respiratory function and prolong patient survival. With the continuous deepening of research, gene-targeted therapy has emerged in recent years. It overcomes the shortcomings of long ERT time and frequent injections, and can effectively increase enzyme content, enhance muscle strength, and improve organ function.