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Open AccessArticle

An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan

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Department of Medicine, MacKay Medical College, New Taipei City 252, Taiwan
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Department of Pediatrics, MacKay Memorial Hospital, Taipei 100, Taiwan
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Department of Medical Research, MacKay Memorial Hospital, Taipei 100, Taiwan
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MacKay Junior College of Medicine, Nursing and Management, Taipei 100, Taiwan
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Department of Medical Research, China Medical University Hospital, China Medical University, Taichung 400, Taiwan
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Institute of Biomedical Sciences, MacKay Medical College, New Taipei City 252, Taiwan
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Department of Pediatrics, MacKay Memorial Hospital, Hsinchu 300, Taiwan
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Institute of Clinical Medicine, National Yang-Ming University, Taipei 100, Taiwan
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Department of Laboratory Medicine, MacKay Memorial Hospital, Taipei 100, Taiwan
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Department of Pediatrics, Kaohsiung Veterans General Hospital, Kaohsiung 800, Taiwan
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Department of Pediatric Neurology, Changhua Christian Children’s Hospital, Changhua 500, Taiwan
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Department of Biological Science and Technology, College of Biological Science and Technology, National Chiao Tung University, Hsinchu 300, Taiwan
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Department of Pediatrics, Chi Mei Medical Center, Tainan 700, Taiwan
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Department of Pediatrics, Taipei Veterans General Hospital, Taipei 100, Taiwan
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College of Medicine, Fu-Jen Catholic University, Taipei 100, Taiwan
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Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei 100, Taiwan
*
Authors to whom correspondence should be addressed.
Diagnostics 2019, 9(4), 140; https://doi.org/10.3390/diagnostics9040140
Received: 16 September 2019 / Revised: 2 October 2019 / Accepted: 2 October 2019 / Published: 5 October 2019
(This article belongs to the Special Issue Mucopolysaccharidoses: Diagnosis, Treatment, and Management)
Background: The mucopolysaccharidoses (MPSs) are a group of rare lysosomal storage disorders characterized by the accumulation of glycosaminoglycans (GAGs) and which eventually cause progressive damage to various tissues and organs. We developed a feasible MPS screening algorithm and established a cross-specialty collaboration platform between medical geneticists and other medical specialists based on at-risk criteria to allow for an earlier confirmative diagnosis of MPS. Methods: Children (<19 years of age) with clinical signs and symptoms compatible with MPS were prospectively enrolled from pediatric clinics between July 2013 and June 2018. Urine samples were collected for a non-specific total GAG analysis using the dimethylmethylene blue (DMB) spectrophotometric method, and the quantitation of three urinary GAGs (dermatan sulfate (DS), heparan sulfate (HS), and keratan sulfate (KS)) was performed by liquid chromatography/tandem mass spectrometry (LC-MS/MS). The subjects with elevated urinary GAG levels were recalled for leukocyte enzyme activity assay and genetic testing for confirmation. Results: Among 153 subjects enrolled in this study, 13 had a confirmative diagnosis of MPS (age range, 0.6 to 10.9 years—three with MPS I, four with MPS II, five with MPS IIIB, and one with MPS IVA). The major signs and symptoms with regards to different systems recorded by pediatricians at the time of the decision to test for MPS were the musculoskeletal system (55%), followed by the neurological system (45%) and coarse facial features (39%). For these 13 patients, the median age at the diagnosis of MPS was 2.9 years. The false negative rate of urinary DMB ratio using the dye-based method for these 13 patients was 31%, including one MPS I, two MPS IIIB, and one MPS IVA. However, there were no false negative results with urinary DS, HS and KS using the MS/MS-based method. Conclusions: We established an at-risk population screening program for MPS by measuring urinary GAG fractionation biomarkers using the LC-MS/MS method. The program included medical geneticists and other medical specialists to increase awareness and enable an early diagnosis by detecting MPS at the initial onset of clinical symptoms. View Full-Text
Keywords: cross-specialty collaboration; glycosaminoglycans; high-risk screening; liquid chromatography/tandem mass spectrometry; mucopolysaccharidosis cross-specialty collaboration; glycosaminoglycans; high-risk screening; liquid chromatography/tandem mass spectrometry; mucopolysaccharidosis
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Lin, H.-Y.; Lee, C.-L.; Lo, Y.-T.; Tu, R.-Y.; Chang, Y.-H.; Chang, C.-Y.; Chiu, P.C.; Chang, T.-M.; Tsai, W.-H.; Niu, D.-M.; Chuang, C.-K.; Lin, S.-P. An At-Risk Population Screening Program for Mucopolysaccharidoses by Measuring Urinary Glycosaminoglycans in Taiwan. Diagnostics 2019, 9, 140.

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