Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening.

ABSTRACT: PURPOSE:The urinary glucose tetrasaccharide, Glc?1-6Glc?1-4Glc?1-4Glc (Glc4), is a biomarker of glycogen accumulation and tissue damage and is elevated in patients with Pompe disease. We report baseline urinary Glc4 concentrations for patients with classic infantile-onset or late-onset Pompe disease, and those with a pseudodeficiency of acid alpha-glucosidase (GAA), identified through newborn screening (NBS) in Taiwan. 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?

SUBMITTER: Chien YH 

PROVIDER: S-EPMC4501239 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature