https://scholars.lib.ntu.edu.tw/handle/123456789/525160
Title: | Later-onset pompe disease: Early detection and early treatment initiation enabled by newborn screening | Authors: | YIN-HSIU CHIEN NI-CHUNG LEE Huang H.-J. Thurberg B.L. Tsai F.-J. WUH-LIANG HWU |
Issue Date: | 2011 | Publisher: | Mosby Inc. | Journal Volume: | 158 | Journal Issue: | 6 | Start page/Pages: | 1023-1027 | Source: | Journal of Pediatrics | Abstract: | Objective: To determine whether newborn screening facilitates early detection and thereby early treatment initiation for later-onset Pompe disease. Study design: We have conducted a newborn screening program since 2005. Newborns with deficient skin fibroblast acid α-glucosidase activity and two acid α-glucosidase gene mutations but no cardiomyopathy were defined as having later-onset Pompe disease, and their motor development and serum creatine kinase levels were monitored every 3 to 6 months. Results: Among 344 056 newborns, 13 (1 in 26 466) were found to have later-onset Pompe disease. During a follow-up period of up to 4 years, four patients were treated because of hypotonia, muscle weakness, delayed developmental milestones/motor skills, or elevated creatine kinase levels starting at the ages of 1.5, 14, 34, and 36 months, respectively. Muscle biopsy specimens obtained from the treated patients revealed increased storage of glycogen and lipids. Conclusion: Newborn screening was found to facilitate the early detection of later-onset Pompe disease. A subsequent symptomatic approach then identifies patients who need early treatment initiation. Copyright ? 2011 Mosby Inc. All rights reserved. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-79955035276&doi=10.1016%2fj.jpeds.2010.11.053&partnerID=40&md5=25011404690351ebb71b25ac31709a71 https://scholars.lib.ntu.edu.tw/handle/123456789/525160 |
ISSN: | 0022-3476 | DOI: | 10.1016/j.jpeds.2010.11.053 | SDG/Keyword: | creatine kinase; glucan 1,4 alpha glucosidase; glycogen; lipid; article; child; clinical article; controlled study; creatine kinase blood level; early diagnosis; early intervention; enzyme activity; female; follow up; gene mutation; glycogen storage disease type 2; human; lipid storage; male; motor development; motor performance; muscle biopsy; muscle hypotonia; muscle weakness; newborn screening; onset age; patient monitoring; preschool child; priority journal; skin fibroblast |
Appears in Collections: | 醫學系 |
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