Newborn Screening for Pompe Disease

Newborn Screening for Pompe Disease

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 re...

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Bibliographic Details
Other Authors: Hwu, Wuh-Liang (Editor), Chien, Yin-Hsiu (Editor), Wang, Raymond (Editor)
Format: Book Chapter
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&amp
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
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DOAB: description of the publication
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Description
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.
Physical Description:1 electronic resource (146 p.)
ISBN:books978-3-0365-0581-7
9783036505800
9783036505817
Access:Open Access

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