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

Affiliations
  • 1Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul, Korea. songjhcp@snu.ac.kr
  • 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.

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).


Reference

1. van der Ploeg AT, Reuser AJ. Pompe's disease. Lancet. 2008; 372:1342–1353.
Article
2. Cho A, Jeong GU, Lim BC, Park JY, Moon JH, Chae JH, et al. Clinical characteristics of childhood Pompe disease. J Korean Child Neurol Soc. 2007; 15:83–89.
3. Manwaring V, Prunty H, Bainbridge K, Burke D, Finnegan N, Franses R, et al. Urine analysis of glucose tetrasaccharide by HPLC; a useful marker for the investigation of patients with Pompe and other glycogen storage diseases. J Inherit Metab Dis. 2012; 35:311–316.
Article
4. Winchester B, Bali D, Bodamer OA, Caillaud C, Christensen E, Cooper A, et al. Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. Mol Genet Metab. 2008; 93:275–281.
Article
5. Labrousse P, Chien YH, Pomponio RJ, Keutzer J, Lee NC, Akmaev VR, et al. Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program. Mol Genet Metab. 2010; 99:379–383.
Article
6. Oda E, Tanaka T, Migita O, Kosuga M, Fukushi M, Okumiya T, et al. Newborn screening for Pompe disease in Japan. Mol Genet Metab. 2011; 104:560–565.
Article
7. Kumamoto S, Katafuchi T, Nakamura K, Endo F, Oda E, Okuyama T, et al. High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population. Mol Genet Metab. 2009; 97:190–195.
Article
8. Chiang SC, Hwu WL, Lee NC, Hsu LW, Chien YH. Algorithm for Pompe disease newborn screening: results from the Taiwan screening program. Mol Genet Meta. 2012; 106:281–286.
Article
9. Young SP, Stevens RD, An Y, Chen YT, Millington DS. Analysis of a glucose tetrasaccharide elevated in Pompe disease by stable isotope dilution–electrospray ionization tandem mass spectrometry. Anal Biochem. 2003; 316:175–180.
Article
10. Young SP, Piraud M, Goldstein JL, Zhang H, Rehder C, Laforet P, et al. Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques. Am J Med Genet C Semin Med Genet. 2012; 160C:50–58.
Article
11. Lennartson G, Lundblad A, Sjöblad S, Svensson S, Ockerman PA. Quantitation of a urinary tetrasaccharide by gas chromatography and mass spectrometry. Biomed Mass Spectrom. 1976; 3:51–54.
Article
12. An Y, Young SP, Kishnani PS, Millington DS, Amalfitano A, Corz D, et al. Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease. Mol Genet Metab. 2005; 85:247–254.
Article
13. An Y, Young SP, Hillman SL, Van Hove JL, Chen YT, Millington DS. Liquid chromatographic assay for a glucose tetrasaccharide, a putative biomarker for the diagnosis of Pompe disease. Anal Biochem. 2000; 287:136–143.
Article
14. Sluiter W, van den Bosch JC, Goudriaan DA, van Gelder CM, de Vries JM, Huijmans JG, et al. Rapid ultraperformance liquid chromatography–tandem mass spectrometry assay for a characteristic glycogen-derived tetrasaccharide in Pompe disease and other glycogen storage diseases. Clin Chem. 2012; 58:1139–1147.
Article
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