Pompe disease is an autosomal recessive lysosomal storage disorder caused by deficiency of acid α-glucosidase (GAA) activity, which results in progressive, debilitating, and often life-threatening symptoms, involving musculoskeletal, respiratory, and cardiac systems. Treatment by enzyme replacement therapy (ERT) with alglucosidase alfa was approved for human use in 2006. In classical IOPD, ERT significantly increases survival rate and improves motor development and cardiac function.
Newborn screening aims to diagnose and treat newborns in early stage by a variety technology.
In newborn screening center at National Taiwan University Hospital, a pilot Pompe newborn screening program has been practiced from 2005 to 2008, testing Pompe disease for approximately 45% of newborns in Taiwan. This is the first large-scale Pompe newborn screening in the world. The screening involved measuring GAA activity in dried blood spot (DBS). After this study, all newborns in Taiwan received GAA screening on voluntary basis.
After screening over 470,000 newborns, we revised the incidence of all types of Pompe disease found by newborn screening to approximately 1 in 17000. Nine newborns (~1 in50 000 newborns)
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