《efficient analysis of urinary GAGs by LCMS in MPS I to III》.pdf

Molecular Genetics and Metabolism 102 (2011) 49–56 Contents lists available at ScienceDirect Molecular Genetics and Metabolism j ournal homepage: www. elsevier. com/ locate/ ymgme Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI Christiane Auray-Blais a,⁎, Patrick Bhérer a, René Gagnon a, Sarah P. Young b, Haoyue H. Zhang b, Yan An b, Joe T.R. Clarke a, David S. Millington b a Service of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, 3001, 12th Avenue North, Sherbrooke, Quebec, Canada J1H 5N4 b Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, 801-6 Capitola Drive, Durham, NC 27713, USA a r t i c l e i n f o a b s t r a c t Article history: Mucopolysaccharidoses (MPSs) are complex storage disorders caused by specific lysosomal enzyme Received 11 September 2010 deficiencies, resulting in the accumulation of glycosaminoglycans (GAGs) in urine, plasma, as well as in Accepted 13 September 2010 various tissues. We devised and validated a straightforward, but accurate and precise tandem mass Available online 17 September 2010 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, Keywords: