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KMID : 1100820150050040211
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Laboratory Medicine Online
2015 Volume.5 No. 4 p.211 ~ p.214
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Evaluation of the Urinary Glucose Tetrasaccharide Assay Using Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry for Diagnosis of Pompe Disease
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Nam Young-Won
Lee Kyung-Hoon
Chun Sun-Hee
Park Kyoung-Un
Song Sang-Hoon
Park Hyung-Doo
Song Jung-Han
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Abstract
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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 μmol/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.
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KEYWORD
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Glucose tetrasaccharide (Glc4), UPLC-MS/MS, Pompe disease
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