Newborn screening: Taiwanese experience

Yin-Hsiu Chien, Wuh-Liang Hwu, Ni-Chung Lee


Newborn screening (NBS) aims to diagnose patients with Pompe disease earlier so that timely treatment can be applied. We describe the evolution of the screening methods in Taiwan with a population in which a pseudodeficiency variant is prevalent. We review and update the outcome of NBS-identified patients and discuss the limitations of the current therapy. We also address the challenges associated with caring for the babies with diagnosed acid alpha-glucosidase deficiency but yet without significant clinical manifestations. Further modifications of the current treatment and better predictive biomarkers should be explored.