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
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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