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

• Nam Y
• Lee K
• Jun SH
• Park KU
• Song SH
• Park HD
• Song J

• KMID: 2046383
• DOI: http://doi.org/10.3343/lmo.2015.5.4.211

Abstract

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.

Keyword

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

MeSH Terms

Calibration
Creatinine
Diagnosis*
Enzyme Replacement Therapy
Glucose*
Glycogen Storage Disease Type II*
Humans
Mass Spectrometry*
Creatinine
Glucose

Figure

• 

  Fig. 1 Representative UPLC-MS/MS MRM chromatograms of 100 µmol/L standard solution of Glc4 (A) and Glc4 in urine samples from a normal control (B) and a patient with Pompe disease (C).

• 

  Fig. 2 Urinary Glc4 concentrations in normal controls (n=27), pseudodeficiency individuals (n=3), and in a patient with Pompe disease, before and after enzyme replacement therapy (ERT).

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