Evaluation of the Urinary Glucose Tetrasaccharide Assay Using Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry for Diagnosis of Pompe Disease.
- Author:
Youngwon NAM
1
;
Kyunghoon LEE
;
Sun Hee JUN
;
Kyung Un PARK
;
Sang Hoon SONG
;
Hyung Doo PARK
;
Junghan SONG
Author Information
- Publication Type:Original Article
- Keywords: Glucose tetrasaccharide (Glc4); UPLC-MS/MS; Pompe disease
- MeSH: Calibration; Creatinine; Diagnosis*; Enzyme Replacement Therapy; Glucose*; Glycogen Storage Disease Type II*; Humans; Mass Spectrometry*
- From:Laboratory Medicine Online 2015;5(4):211-214
- CountryRepublic of Korea
- Language:Korean
- 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.
