Document Detail

Later-Onset Pompe Disease: Early Detection and Early Treatment Initiation Enabled by Newborn Screening.
MedLine Citation:
PMID:  21232767     Owner:  NLM     Status:  Publisher    
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.
Yin-Hsiu Chien; Ni-Chung Lee; Hsiang-Ju Huang; Beth L Thurberg; Fuu-Jen Tsai; Wuh-Liang Hwu
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-1-11
Journal Detail:
Title:  The Journal of pediatrics     Volume:  -     ISSN:  1097-6833     ISO Abbreviation:  -     Publication Date:  2011 Jan 
Date Detail:
Created Date:  2011-1-14     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0375410     Medline TA:  J Pediatr     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2011 Mosby, Inc. All rights reserved.
Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei; Department of Medical Genetics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei.
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