Original ArticleLater-Onset Pompe Disease: Early Detection and Early Treatment Initiation Enabled by Newborn Screening
Section snippets
Methods
The Newborn Screening Center at National Taiwan University Hospital initiated an NBS program for Pompe disease in 2005. GAA activity was measured in dried bloodspots via a fluorescence assay.13 The screening algorithm was as follows: first, newborns with dried bloodspot GAA activity <8% of the normal mean, a neutral α-glucosidase/GAA ratio >60, and GAA inhibition by acarbose >80% were first referred for confirmation; second, after the confirmatory testing, newborns with lymphocyte GAA activity
Results
After screening 344 056 newborns from 2005 to 2009, 19 were confirmed to have Pompe disease (Table I). Six newborns showed hypertrophic cardiomyopathy during the neonatal period and were therefore classified as having infantile-onset Pompe disease, and five of them (NBS2-6) have been described.6 The other 13 newborns (Cases 1 to 13, who did not have hypertrophic cardiomyopathy) were classified as having later-onset Pompe disease. The prevalence at live birth of all types of Pompe disease found
Discussion
In this study, we detected 13 newborns with later-onset Pompe disease by newborn screening. Signs/symptoms such as hypotonia, muscle weakness, delayed developmental milestones or motor skills, or elevated CK levels were observed in most of them during follow-up, and four patients were treated starting from ages 1.5 months to 3 years. Because they need treatment from such a young age but they differ from patients with infantile-onset Pompe disease by the lack of hypertrophic cardiomyopathy, we
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Partially supported by a grant from the Taiwanese National Science Council (NSC96-2314-B-002-044-MY3). Y.C. has received honoraria and research grant funding from Genzyme. W.H. has received honoraria, travel funding, and research grant funding from and serves on an advisory board for Genzyme. B.T. is a full-time employee of Genzyme Corporation. The other authors declare no conflicts of interest.