A review of treatment of Pompe disease in infants

Yin-Hsiu Chien, Wuh-Liang Hwu

Departments of Pediatrics and Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan

Abstract: The glycogen storage disease type II (GSD-II), or Pompe disease, is due to the deficit of lysosomal glycogen degradation enzyme acid α-glucosidase (GAA). In infants, Pompe disease is characterized by prominent hypotonia, muscle weakness, motor delay, feeding problems, and respiratory and cardiac insufficiency. In a retrospective study, the median age at death was 8.7 months. Enzyme replacement therapy with recombinant human GAA is recently used to treat patients with Pompe disease, and has been shown to prolong survival, reverse cardiomyopathy, and improve motor function. This article briefly reviews the history and manifestations of Pompe disease, and then focuses on the development of the drug for Pompe disease, alglucosidase alfa. Current status of treatment and future developments are also discussed.

Keywords: alglucosidase alfa, Pompe disease, alpha-glucosidase