Newborn Screening for Pompe Disease

Newborn Screening for Pompe Disease
Author :
Publisher : MDPI
Total Pages : 146
Release :
ISBN-10 : 9783036505800
ISBN-13 : 3036505806
Rating : 4/5 (806 Downloads)

Book Synopsis Newborn Screening for Pompe Disease by : Wuh-Liang Hwu

Download or read book Newborn Screening for Pompe Disease written by Wuh-Liang Hwu and published by MDPI. This book was released on 2021-09-02 with total page 146 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.


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