Lab Med Online.  2015 Oct;5(4):211-214. 10.3343/lmo.2015.5.4.211.

Evaluation of the Urinary Glucose Tetrasaccharide Assay Using Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry for Diagnosis of Pompe Disease

  • 1Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea.
  • 2Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea.
  • 3Department of Laboratory Medicine, Seoul National University Bundang Hospital, Seongnam, Korea.
  • 4Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.


We evaluated the urinary glucose tetrasaccharide (Glc4) assay using ultra-performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS). The calibration curve was linear over a range of 5-500 micromol/L. Performance parameters such as intra- and inter-day imprecision CVs were 6.52-14.6% and 11.5-13.2%, respectively. The mean concentrations of urinary Glc4 in 27 normal controls and 3 pseudodeficiency patients were 1.5 and 12.1 mmol/mol creatinine, respectively. Urinary Glc4 concentration in a patient with Pompe disease was 171.3 mmol/mol creatinine, which decreased to 130.9 mmol/mol following enzyme replacement therapy. Based on our results, we suggest that the urinary Glc4 assay using UPLC-MS/MS can be a reliable diagnostic tool for identification of patients with Pompe disease.


Glucose tetrasaccharide (Glc4); UPLC-MS/MS; Pompe disease
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