Normalization of glycosaminoglycan-derived disaccharides detected by tandem mass spectrometry assay for the diagnosis of mucopolysaccharidosis
Autor: | Ru-Yi Tu, Shuan-Pei Lin, Sung-Fa Huang, Tuan-Jen Wang, Tzu-Lin Chen, Yun-Ting Lo, Chih-Kuang Chuang, Hsiang-Yu Lin |
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Jazyk: | angličtina |
Rok vydání: | 2019 |
Předmět: |
0301 basic medicine
Adult medicine.medical_specialty Adolescent Keratan sulfate Mucopolysaccharidosis Mucopolysaccharidosis I lcsh:Medicine Tandem mass spectrometry Disaccharides Biochemical assays Dermatan sulfate Article Gas Chromatography-Mass Spectrometry Glycosaminoglycan 03 medical and health sciences chemistry.chemical_compound Mucopolysaccharidosis III Young Adult 0302 clinical medicine Polysaccharides Tandem Mass Spectrometry Internal medicine medicine Humans Chondroitin sulfate Child skin and connective tissue diseases lcsh:Science Glycosaminoglycans Mucopolysaccharidosis II Creatinine Multidisciplinary lcsh:R Infant Mucopolysaccharidosis IV nutritional and metabolic diseases Heparan sulfate Mucopolysaccharidoses medicine.disease 030104 developmental biology Endocrinology chemistry Case-Control Studies Child Preschool lcsh:Q 030217 neurology & neurosurgery |
Zdroj: | Scientific Reports, Vol 9, Iss 1, Pp 1-9 (2019) Scientific Reports |
ISSN: | 2045-2322 |
Popis: | Mucopolysaccharidosis (MPS) is caused by the deficiency of a specific hydrolytic enzyme that catalyzes the step-wise degradation of glycosaminoglycans (GAGs). In this study, we propose an empirical method to calculate levels of GAG-derived disaccharides based on the quantity (peak areas) of chondroitin sulfate (CS) with the aim of making a diagnosis of MPS more accurate and reducing the occurrence of false positive and false negative results. In this study, levels of urinary GAG-derived disaccharides were measured in 67 patients with different types of MPS and 165 controls without MPS using a tandem mass spectrometry assay. Two different methods of reporting GAG-derived disaccharides were assessed; normalization to urinary CS (in μg/mL), and normalization to μg/mg creatinine. CS-normalization yielded more consistent values than creatinine-normalization. In particular, levels of urinary dermatan sulfate (DS), heparan sulfate (HS), and keratan sulfate (KS) significantly varied because of changes in urine creatinine levels, which were proportional to age but inversely proportional to DS, HS, and KS measurements. Using CS-normalization revealed the actual status of DS, HS, and KS without the influence of factors such as age, urine creatinine, and other physiological conditions. It could discriminate between the patients with MPS and controls without MPS, and also to evaluate changes in GAG levels pre- and post-enzyme replacement therapy. |
Databáze: | OpenAIRE |
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