This publication reviews newborn screening for Pompe disease in Taiwan including 1) the evolution of the screening methods in Taiwan with a population in which a pseudodeficiency variant is prevalent, 2) the outcome of NBS-identified patients and discuss the limitations of the current therapy, and 3) the challenges associated with caring for the babies with diagnosed acid alpha-glucosidase deficiency but yet without significant clinical manifestations.
The article concludes that early detection and ERT are beneficial to classic severe infantile onset Pompe Disease (IOPD) patients, but current therapy has limitations, in particular with respect to the skeletal and neurologic manifestations of the disease. A combination of early detection, close monitoring and early ERT is likely to be beneficial to less-severe late onset Pompe disease (LOPD) patients, but adequate genetic counseling, education and support for both parents and patients should be encouraged.
Authors: Yin-Hsiu Chien, Wuh-Liang Hwu, Ni-Chung Lee
Annals of Translational Medicine. Vol 7, No 13 (July 2019)