Abstract
BackgroundThe aim of this study was to use the liquid chromatography/tandem mass spectrometry (LC‐MS/MS) method to quantitate levels of three urinary glycosaminoglycans (GAGs; dermatan sulfate [DS], heparan sulfate [HS], and keratan sulfate [KS]) to help make a correct diagnosis of mucopolysaccharidosis (MPS).MethodsWe analyzed the relationships between phenotypes and levels of urinary GAGs of 79 patients with different types of MPS.ResultsThe patients with mental retardation (n = 21) had significantly higher levels of HS than those without mental retardation (n = 58; 328.8 vs. 3.2 μg/ml, p < 0.001). The DS levels in the patients with hernia, hepatosplenomegaly, claw hands, coarse face, valvular heart disease, and joint stiffness were higher than those without. Twenty patients received enzyme replacement therapy (ERT) for 1–12.3 years. After ERT, the KS level decreased by 90% in the patients with MPS IVA compared to a 31% decrease in the change of dimethylmethylene blue (DMB) ratio. The DS level decreased by 79% after ERT in the patients with MPS VI compared to a 66% decrease in the change of DMB ratio.ConclusionsThe measurement of GAG fractionation biomarkers using the LC‐MS/MS method is a more sensitive and reliable tool than the DMB ratio for MPS high‐risk screening, diagnosis, subclass identification, and monitoring the efficacy of ERT.
Highlights
The mucopolysaccharidoses (MPSs) are a group of lysosomal storage disorders caused by the deficiency of specific enzymes that catalyze the stepwise degradation of glycosaminoglycans (GAGs)
Our results demonstrated these findings according to the quantitative data of urinary GAGs (DS, heparan sulfate (HS), and keratan sulfate (KS)) using the LC‐MS/MS method
Our results showed that the LC‐MS/MS method was highly sensitive and specific to discriminate dermatan sulfate (DS), HS, and KS, and that it could be used to differentiate different types of MPS
Summary
The mucopolysaccharidoses (MPSs) are a group of lysosomal storage disorders caused by the deficiency of specific enzymes that catalyze the stepwise degradation of glycosaminoglycans (GAGs). The aim of this study was to use the liquid chromatography/tandem mass spectrometry (LC‐MS/MS) method to quantitate levels of three urinary glycosaminoglycans (GAGs; dermatan sulfate [DS], heparan sulfate [HS], and keratan sulfate [KS]) to help make a correct diagnosis of mucopolysaccharidosis (MPS). Methods: We analyzed the relationships between phenotypes and levels of urinary GAGs of 79 patients with different types of MPS. After ERT, the KS level decreased by 90% in the patients with MPS IVA compared to a 31% decrease in the change of dimethylmethylene blue (DMB) ratio. The DS level decreased by 79% after ERT in the patients with MPS VI compared to a 66% decrease in the change of DMB ratio. Conclusions: The measurement of GAG fractionation biomarkers using the LC‐ MS/MS method is a more sensitive and reliable tool than the DMB ratio for MPS
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