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Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI.

Publication ,  Journal Article
Auray-Blais, C; Bhérer, P; Gagnon, R; Young, SP; Zhang, HH; An, Y; Clarke, JTR; Millington, DS
Published in: Mol Genet Metab
January 2011

Mucopolysaccharidoses (MPSs) are complex storage disorders caused by specific lysosomal enzyme deficiencies, resulting in the accumulation of glycosaminoglycans (GAGs) in urine, plasma, as well as in various tissues. We devised and validated a straightforward, but accurate and precise tandem mass spectrometry methodology coupled to high performance liquid chromatography (LC-MS/MS) for the quantification of GAGs in urine. The method is applicable to the investigation of patients with MPS I, II, and VI, by quantifying dermatan sulfate (DS) and heparan sulfate (HS) in urine. We analyzed urine samples from 28 MPS patients, aged 1 to 42 years, and 55 control subjects (41 days to 18 years old). Levels of DS and HS in urine from healthy controls of all ages were below the limit of quantification. The levels of DS and HS in urine from 6 treated patients with MPS I were lower than in 6 untreated patients in DS (0.7-45 vs 9.3-177 mg/mmol creat) and HS (0-123 mg/mmol creatinine vs 38-418 mg/mmol creatinine); similar results were obtained for 9 patients with MPS II and 7 patients with MPS VI. Analyses were performed on as little as 250 μL of urine. Methanolysis took 75 min per sample; the total analysis run time for each LC-MS/MS injection was 8 min. Results indicate that the method is applicable to a wide variety of situations in which high accuracy and precision are required, including the evaluation of the effectiveness of existing and emerging treatments.

Duke Scholars

Published In

Mol Genet Metab

DOI

EISSN

1096-7206

Publication Date

January 2011

Volume

102

Issue

1

Start / End Page

49 / 56

Location

United States

Related Subject Headings

  • Young Adult
  • Tandem Mass Spectrometry
  • Reference Values
  • Mucopolysaccharidosis VI
  • Mucopolysaccharidosis II
  • Mucopolysaccharidosis I
  • Male
  • Infant
  • Humans
  • Heparitin Sulfate
 

Citation

APA
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MLA
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Auray-Blais, C., Bhérer, P., Gagnon, R., Young, S. P., Zhang, H. H., An, Y., … Millington, D. S. (2011). Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI. Mol Genet Metab, 102(1), 49–56. https://doi.org/10.1016/j.ymgme.2010.09.003
Auray-Blais, Christiane, Patrick Bhérer, René Gagnon, Sarah P. Young, Haoyue H. Zhang, Yan An, Joe T. R. Clarke, and David S. Millington. “Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI.Mol Genet Metab 102, no. 1 (January 2011): 49–56. https://doi.org/10.1016/j.ymgme.2010.09.003.
Auray-Blais C, Bhérer P, Gagnon R, Young SP, Zhang HH, An Y, et al. Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI. Mol Genet Metab. 2011 Jan;102(1):49–56.
Auray-Blais, Christiane, et al. “Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI.Mol Genet Metab, vol. 102, no. 1, Jan. 2011, pp. 49–56. Pubmed, doi:10.1016/j.ymgme.2010.09.003.
Auray-Blais C, Bhérer P, Gagnon R, Young SP, Zhang HH, An Y, Clarke JTR, Millington DS. Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI. Mol Genet Metab. 2011 Jan;102(1):49–56.
Journal cover image

Published In

Mol Genet Metab

DOI

EISSN

1096-7206

Publication Date

January 2011

Volume

102

Issue

1

Start / End Page

49 / 56

Location

United States

Related Subject Headings

  • Young Adult
  • Tandem Mass Spectrometry
  • Reference Values
  • Mucopolysaccharidosis VI
  • Mucopolysaccharidosis II
  • Mucopolysaccharidosis I
  • Male
  • Infant
  • Humans
  • Heparitin Sulfate