Newborn Screening for Pompe Disease

• Other Authors: Hwu, Wuh-Liang (Editor), Chien, Yin-Hsiu (Editor), Wang, Raymond (Editor)
• Format: Electronic Book Chapter
• Language: English
• Published: Basel, Switzerland MDPI - Multidisciplinary Digital Publishing Institute 2021
• Subjects: Technology: general issues; Pompe disease; newborn screening; diagnosis; infantile onset Pompe disease; late onset Pompe disease; patient perspective; n/a; California; follow-up; pseudodeficiency; late-onset; infantile-onset; presymptomatic; c.-32-13T& gt; G; infantile-onset Pompe disease; GAA sequencing; immune modulation therapy; enzyme replacement therapy; cross-reactive immunologic material; genotype-phenotype correlation; treatment and follow-up; lysosomal storage diseases; variant cut-off; next generation sequencing; dried blood spots; new disorders implementation; acid α-glucosidase; alpha glucosidase; Pompe disease diagnostics testing
• Online Access: DOAB: download the publication; DOAB: description of the publication

Pompe disease, also known as acid maltase deficiency or acid alpha-glucosidase deficiency, in its most severe form results in a rapidly progressive, neonatal-onset skeletal and cardiomyopathy, leading to early infantile death without treatment. The development of treatment with recombinant enzyme replacement therapy radically transformed the clinical trajectory of those affected, enabling long-term ventilator-free survival with resolution of cardiomyopathy. These positive clinical outcomes resulted in the implementation of newborn screening programs for Pompe disease across the world. This Special Issue highlights some of the experiences of Pompe screening programs worldwide and discusses public policy and ethical issues elicited by presymptomatic screening for Pompe disease.