Reprint
Newborn Screening for Pompe Disease
Edited by
July 2021
146 pages
- ISBN978-3-0365-0580-0 (Hardback)
- ISBN978-3-0365-0581-7 (PDF)
This book is a reprint of the Special Issue Newborn Screening for Pompe Disease that was published in
Biology & Life Sciences
Medicine & Pharmacology
Public Health & Healthcare
Summary
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.
Format
- Hardback
License
© 2022 by the authors; CC BY-NC-ND license
Keywords
Pompe disease; newborn screening; diagnosis; infantile onset Pompe disease; late onset Pompe disease; patient perspective; Pompe disease; newborn screening; n/a; Pompe disease; newborn screening; California; Pompe disease; newborn screening; follow-up; pseudodeficiency; Pompe disease; late-onset; infantile-onset; newborn screening; presymptomatic; c.-32-13T> G; infantile-onset Pompe disease; GAA sequencing; immune modulation therapy; enzyme replacement therapy; cross-reactive immunologic material; Pompe disease; newborn screening; pseudodeficiency; genotype-phenotype correlation; treatment and follow-up; newborn screening; lysosomal storage diseases; variant cut-off; next generation sequencing; diagnosis; dried blood spots; newborn screening; Pompe disease; new disorders implementation; newborn screening; Pompe disease; acid α-glucosidase; Pompe disease; newborn screening; alpha glucosidase; newborn screening; Pompe disease; dried blood spots; Pompe disease diagnostics testing