Abstract | PURPOSE: METHODS: Infants identified through NBS with (1) classic infantile-onset Pompe disease (NBS-IOPD) (n = 7) defined as patients with evidence for hypertrophic cardiomyopathy by EKG, X-ray, and echocardiogram, (2) a late-onset phenotype (NBS-LOPD) (n = 13) defined as patients without evidence for cardiomyopathy, (3) a GAA pseudodeficiency (n = 58), and (4) one patient with LOPD diagnosed in infancy due to family history were consented to the study. Four infants diagnosed after the onset of clinical symptoms (CLIN-IOPD) were included for comparison. Glc4 concentrations in dried urine samples on filter paper were determined using tandem mass spectrometry. RESULTS: Baseline Glc4 concentrations were at or above the 90th centile of the age-matched reference range for the NBS-IOPD cohort. The median Glc4 level for this group was lower than that of the CLIN-IOPD group, although not at the level of significance (p = 0.07), but was significantly higher than that of the NBS-LOPD group (p < 0.05). Baseline Glc4 was not elevated for the NBS-LOPD and GAA pseudodeficiency cohorts and remained low for late-onset patients that did not require treatment before the age of three years. CONCLUSION: Baseline urinary Glc4 is elevated in neonates with infantile-onset Pompe disease identified through NBS.
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Authors | Yin-Hsiu Chien, Jennifer L Goldstein, Wuh-Liang Hwu, P Brian Smith, Ni-Chung Lee, Shu-Chuan Chiang, Adviye A Tolun, Haoyue Zhang, Amie E Vaisnins, David S Millington, Priya S Kishnani, Sarah P Young |
Journal | JIMD reports
(JIMD Rep)
Vol. 19
Pg. 67-73
( 2015)
ISSN: 2192-8304 [Print] United States |
PMID | 25681082
(Publication Type: Journal Article)
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