Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry

Journal of Inherited Metabolic Disease

Volumn 40, Issue 1, 2017, Pages 151-158

  Kubaski, Francyne ^a,b   Mason, Robert W ^a,b   Nakatomi, Akiko ^c   Shintaku, Haruo ^d   Xie, Li ^a   van Vlies, Naomi N ^e   Church, Heather ^f   Giugliani, Roberto ^g   Kobayashi, Hironori ^h   Yamaguchi, Seiji ^h   Suzuki, Yasuyuki ⁱ   Orii, Tadao ⁱ   Fukao, Toshiyuki ⁱ   Montaño, Adriana M ^j   Tomatsu, Shunji ^a,h,i  

^a NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^b UNIVERSITY OF DELAWARE   (United States)

^c NAGASAKI UNIVERSITY   (Japan)

^d OSAKA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^e ACADEMIC MEDICAL CENTER   (Netherlands)

^f Hopital Manchester Centre Hospitalier de Charleville Mezieres   (France)

^g HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^h SHIMANE UNIVERSITY   (Japan)

ⁱ GIFU UNIVERSITY   (Japan)

^j SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CHONDROITIN SULFATE; CHONDROSINE; DERMATAN SULFATE; GLYCOSAMINOGLYCAN; HEPARAN SULFATE; HEPARITINASE; HYALURONIC ACID; KERATAN SULFATE; KERATANASE II; N ACETYLGALACTOSAMINE 4 SULFATASE; POLYMER; UNCLASSIFIED DRUG; ACETYLGLUCOSAMINIDASE; CHONDROITIN ABC LYASE; CHONDROITINASE B; DISACCHARIDE; HEPARITINSULFATE LYASE; POLYSACCHARIDE LYASE;

ARTICLE; BLOOD ANALYSIS EQUIPMENT; CONTROLLED STUDY; DRIED BLOOD SPOT TESTING; HUMAN; HUNTER SYNDROME; HURLER SYNDROME; LIMIT OF DETECTION; LIMIT OF QUANTITATION; LIQUID CHROMATOGRAPHY; MAJOR CLINICAL STUDY; MASS SPECTROMETER; NEWBORN; NEWBORN CARE; NEWBORN SCREENING; PILOT STUDY; PREDICTIVE VALUE; REFERENCE VALUE; SANFILIPPO SYNDROME; SENSITIVITY AND SPECIFICITY; TANDEM MASS SPECTROMETRY; BLOOD; METABOLISM; MUCOPOLYSACCHARIDOSIS; PROCEDURES;

ACETYLGLUCOSAMINIDASE; CHONDROITINASES AND CHONDROITIN LYASES; CHROMATOGRAPHY, LIQUID; DERMATAN SULFATE; DISACCHARIDES; GLYCOSAMINOGLYCANS; HEPARITIN SULFATE; HUMANS; INFANT, NEWBORN; MUCOPOLYSACCHARIDOSES; NEONATAL SCREENING; PILOT PROJECTS; POLYSACCHARIDE-LYASES; TANDEM MASS SPECTROMETRY;

EID: 84990966220     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-016-9981-6     Document Type: Article

References (51)

1. Auclair D, Hopwood JJ, Brooks DA et al (2003) Replacement therapy in Mucopolysaccharidosis type VI: advantages of early onset of therapy. Mol Genet Metab 78:163–174
2. Baldo G, Matte U, Artigalas O et al (2011) Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI. Mol Genet Metab 103:197–198
3. Baldo G, Mayer FQ, Martinelli BZ et al (2013) Enzyme replacement therapy started at birth improves outcome in difficult-to-treat organs in mucopolysaccharidosis I mice. Mol Genet Metab 109:33–40
4. Beck M, Braun S, Coerdt W et al (1992) Fetal presentation of Morquio disease type A. Prenat Diagn 12:1019–1029
5. Blanchard S, Sadilek M, Scott CR et al (2008) Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I. Clin Chem 54:2067–2070
6. Chace DH, Hannon WH (2010) Impact of second-tier testing on the effectiveness of newborn screening. Clin Chem 56:1653–1655
7. de Ruijter J, Minke HR, Wagemans T et al (2012) Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses type I, II and III. Mol Genet Metab 107:705–710
8. Gabrielli O, Clarke LA, Bruni S et al (2010) Enzyme-replacement therapy in a 5-month-old boy with attenuated presymptomatic MPS I: 5-year follow-up. Pediatrics 125:183–187
9. Gelb MH, Turecek F, Scott CR et al (2006) Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders. J Inherit Metab Dis 29:397–404
10. Gelb MH, Scott CR, Turecek F (2015) Newborn screening for lysosomal storage diseases. Clin Chem 61:335–346
11. Gucciardi A, Legini E, Di Gangi IM et al (2014) A column-switching HPLC-MS/MS method for mucopolysaccharidosis type I analysis in a multiplex assay for the simultaneous newborn screening of six lysosomal storage disorders. Biomed Chromatogr 28:1131–1139
12. Hennessey PT, Hurst RE, Hemstreet GP et al (1981) Urinary glycosaminoglycan excretion as a biochemical marker in patients with bladder carcinoma. Cancer Res 41:3868–3873
13. Hopkins PV, Campbell C, Klug T et al (2015) Lysosomal storage disorder screening implementation: findings from the first six months of full population pilot testing in Missouri. J Pediatr 166:172–177
14. Komosinska-Vassev K, Olczyk K, Kozma EM et al (2005) Alterations of glycosaminoglycan metabolism in the development of diabetic complications in relation to metabolic control. Clin Chem Lab Med 43:924–929
15. Lawrence R, Brown JR, Al-Mafraji K et al (2012) Disease-specific non-reducing end carbohydrate biomarkers for mucopolysaccharidoses. Nat Chem Biol 8:197–204
16. Lawrence R, Brown JR, Lorey F et al (2014) Glycan-based biomarkers for mucopolysaccharidoses. Mol Genet Metab 111:73–83
17. Leys C, Ley C, Klein O et al (2013) Detecting outliers: do not use standard deviation around the mean, use absolute deviation around the median. J Exp Soc Psychol 49:764–766
18. Liao HC, Chiang CC, Niu DM et al (2014) Detecting multiple lysosomal storage diseases by tandem mass spectrometry—a national newborn screening program in Taiwan. Clin Chem Acta 431:80–86
19. Lin SP, Lin HY, Wang TJ et al (2013) A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan. Orphanet J Rare Dis 22:1–8
20. Mankin HJ, Lippiello L et al (1971) The glycosaminoglycans of normal and arthritic cartilage. J Clin Invest 50:1712–1719
21. Martin JJ, Ceuterick C (1983) Prenatal pathology in mucopolysaccharidoses: a comparison with postnatal cases. Clin Neuropathol 2:122–127
22. McGill JJ, Inwood AC, Coman DJ et al (2010) Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age—a sibling control study. Clin Genet 77:492–498
23. Meikle PJ, Grasby DJ, Dean CJ et al (2006) Newborn screening for lysosomal storage disorders. Mol Genet Metab 88:307–314
24. Muenzer J (2014) Early initiation of enzyme replacement therapy for the mucopolysaccharidoses. Mol Genet Metab 111:63–72
25. Neufeld E, Muenzer J (2001) The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 3421–3452
26. Oguma T, Tomatsu S, Montaño AM et al (2007) Analytical method for determination of disaccharides derived from keratan, heparan, and dermatan sulfates in human serum and plasma by high-performance liquid chromatography/turbo ionspray ionization tandem mass spectrometry. Anal Biochem 368:79–86
27. Ohashi A, Montaño AM, Colón JE et al (2009) Sacral dimple: incidental findings from newborn evaluation. Mucopolysaccharidosis IVA disease. Acta Paediatr 98:768–769
28. Poe MD, Chagnon SL, Escolar ML (2014) Early treatment is associated with improved cognition in Hurler syndrome. Ann Neurol 76:1–24
29. R Core Team (2014) R: a language and environment for statistical computing. R Foundation for Statistical Computing, Vienna. (http://www.R-project.org/)
30. Rowan DJ, Tomatsu S, Grubb JH et al (2013) Assessment of bone dysplasia by micro-CT and glycosaminoglycan levels in mouse models for mucopolysaccharidosis type I, IIA, IVA and VII. J Inherit Metab Dis 36:235–246
31. Ruijter GJ, Goudriaan DA, Boer AM et al (2014) Newborn screening for hunter disease: a small-scale feasibility study. J Inherit Metab Dis Rep 14:23–27
32. Saad OM, Ebel H, Uchimura K et al (2005) Compositional profiling of heparin/heparan sulfate using mass spectrometry: assay for specificity of a novel extracellular human endosulfatase. Glycobiology 15:818–826
33. Schulze-Frenking G, Jones SA, Roberts J et al (2011) Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II. J Inherit Metab Dis 34:203–208
34. Scott CR, Elliott S, Buroker N et al (2013) Identification of infants at risk for developing Fabry, Pompe, or Mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry. J Pediatr 163:498–503
35. Shimada T, Kelly J, LaMarr WA et al (2014a) Novel heparan sulfate assay by using automated high-throughput mass spectrometry: application to monitoring and screening for mucopolysaccharidoses. Mol Genet Metab 113:92–99
36. Shimada T, Tomatsu S, Yasuda E et al (2014b) Chondroitin 6-sulfate as a novel biomarker for mucopolysaccharidosis type I, IIIA, IVA and VII. J Inherit Metab Dis Rep 16:15–24
37. Shimada T, Tomatsu S, Mason RW et al (2015) Di-sulfated KS as a novel biomarker for mucopolysaccharidosis II, IVA, and IVB. J Inherit Metab Dis Rep 21:1–13
38. Spacil Z, Tatipaka H, Barcenas M et al (2013) High-throughput assay of 9 lysosomal enzymes for newborn screening. Clin Chem 59:502–511
39. Tomatsu S, Orii KO, Vogler C et al (2003) Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns−/−) produced by targeted disruption of the gene defective in Morquio A Disease. Hum Mol Genet 12:3349–3358
40. Tomatsu S, Okamura K, Maeda H et al (2005) Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses. J Inherit Metab Dis 28:187–202
41. Tomatsu S, Montaño AM, Oguma T et al (2010) Validation of keratan sulfate level in mucopolysaccharidosis IVA by liquid tandem mass spectrometry method. J Inherit Metab Dis 33:35–42
42. Tomatsu S, Fujii T, Fukushi M et al (2013) Newborn screening and diagnosis of mucopolysaccharidoses. Mol Genet Metab 110:42–53
43. Tomatsu S, Shimada T, Mason RW et al (2014) Establishment of glycosaminoglycan assays for mucopolysaccharidoses. Metabolites 4:655–679
44. Tomatsu S, Almeciga-Diaz CJ, Montano AM et al (2015) Therapies for the bone in mucopolysaccharidoses. Mol Genet Metab 114:94–109
45. Tomatsu S, Azario I, Sawamoto K et al (2016) Neonatal cellular and gene therapies for mucopolysaccharidoses: the earlier the better? J Inherit Metab Dis 39:189–202
46. Turgeon CT, Magera MJ, Cuthbert CD et al (2010) Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry. Clin Chem 56:1686–1695
47. U.S. Department of Health and Human Services (2001) Guidance for Industry. Bioanalytical method validation. Food and Drug Administration. Center for Drug Evaluation and Research (CDER). Center for Veterinary Medicine (CVM). Available at: http://www.fda.gov/downloads/Drugs/…/Guidances/ucm070107.pdf
48. Vogler C, Birkenmeier EH, Sly WS et al (1990) A murine model of mucopolysaccharidosis VII. Gross and microscopic findings in beta-glucuronidase-deficient mice. Am J Pathol 136:207–217
49. Wei W, Ninñonuevo MR, Sharma A et al (2011) A comprehensive compositional analysis of heparin/heparan sulfate-derived disaccharides from human serum. Anal Chem 83:3703–3708
50. Wolfe BJ, Blanchard S, Sadilek M et al (2011) Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis II (Hunter syndrome). Anal Chem 83:1152–1156
51. Zhang Y, Conrad AH, Tasheva ES et al (2005) Detection and quantification of sulfated disaccharides from keratin sulfate and chondroitin/dermatan sulfate during chick corneal development by ESI-MS/MS. Invest Ophthalmol Vis Sci 46:1604–1614