The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape

Molecular Genetics and Metabolism

Volumn 113, Issue 1, 2014, Pages 34-41

  Bodamer, Olaf A ^a   Giugliani, Roberto ^b   Wood, Tim ^c  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^c GREENWOOD GENETIC CENTER   (United States)

Author keywords

Enzyme activity; Exome; Glycosaminoglycans; Heparan sulfate; Mucopolysaccharidosis III; Newborn screening

Indexed keywords

BIOLOGICAL MARKER; DIMETHYLMETHYLENE BLUE; DYE; GLYCOSAMINOGLYCAN; HEPARAN SULFATE; METHYLENE BLUE; UNCLASSIFIED DRUG;

AMNIOTIC FLUID CELL; CHORION VILLUS; DIAGNOSTIC TEST; DIAGNOSTIC TEST ACCURACY STUDY; DISEASE SEVERITY; DRIED BLOOD SPOT TESTING; ELECTROPHORESIS; ENZYME ACTIVITY; EXOME; FAMILY; FAMILY PLANNING; FILTER; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; GOLD STANDARD; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HIGH THROUGHPUT SCREENING; HUMAN; LABORATORY DIAGNOSIS; LEUKOCYTE; MOLECULAR GENETICS; NEWBORN SCREENING; PHYSICAL DISEASE BY BODY FUNCTION; PLASMA; PREDICTIVE VALUE; PRENATAL DIAGNOSIS; QUANTITATIVE ASSAY; REVIEW; SANFILIPPO SYNDROME; SENSITIVITY AND SPECIFICITY; SERUM; SKIN FIBROBLAST; SPECTROPHOTOMETRY; TANDEM MASS SPECTROMETRY; THIN LAYER CHROMATOGRAPHY; URINALYSIS; URINE; MUCOPOLYSACCHARIDOSIS III; NEWBORN; PROCEDURES;

DIAGNOSTIC TESTS, ROUTINE; GENETIC TESTING; HUMANS; INFANT, NEWBORN; MUCOPOLYSACCHARIDOSIS III; NEONATAL SCREENING;

EID: 84908501485     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2014.07.013     Document Type: Review

References (109)

1. Neufeld E.F., Muenzer J. The mucopolysaccharidoses. The Metabolic and Molecular Bases of Inherited Disease 2001, vol. III:3421-3452. McGraw-Hill, New York.
2. Clarke L.A. The mucopolysaccharidoses: a success of molecular medicine. Expert Rev. Mol. Med. 2008, 10:e1.
3. Meikle P.J., Hopwood J.J., Clague A.E., Carey W.F. Prevalence of lysosomal storage disorders. JAMA 1999, 281:249-254.
4. Valstar M.J., Ruijter G.J., van Diggelen O.P., Poorthuis B.J., Wijburg F.A. Sanfilippo syndrome: a mini-review. J. Inherit. Metab. Dis. 2008, 31:240-252.
5. Kowalewski B., Lamanna W.C., Lawrence R., Damme M., Stroobants S., Padva M., Kalus I., Frese M.A., Lubke T., Lullmann-Rauch R., D'Hooge R., Esko J.D., Dierks T. Arylsulfatase G inactivation causes loss of heparan sulfate 3-O-sulfatase activity and mucopolysaccharidosis in mice. Proc. Natl. Acad. Sci. U. S. A. 2012, 109:10310-10315.
6. Wijburg F.A., Wegrzyn G., Burton B.K., Tylki-Szymanska A. Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder. Acta Paediatr. 2013, 102:462-470.
7. Valstar M.J., Neijs S., Bruggenwirth H.T., Olmer R., Ruijter G.J., Wevers R.A., van Diggelen O.P., Poorthuis B.J., Halley D.J., Wijburg F.A. Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations. Ann. Neurol. 2010, 68:876-887.
8. Valstar M.J., Bruggenwirth H.T., Olmer R., Wevers R.A., Verheijen F.W., Poorthuis B.J., Halley D.J., Wijburg F.A. Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype. J. Inherit. Metab. Dis. 2010, 33:759-767.
9. Ruijter G.J., Valstar M.J., van de Kamp J.M., van der Helm R.M., Durand S., van Diggelen O.P., Wevers R.A., Poorthuis B.J., Pshezhetsky A.V., Wijburg F.A. Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. Mol. Genet. Metab. 2008, 93:104-111.
10. Valstar M.J., Bertoli-Avella A.M., Wessels M.W., Ruijter G.J., de Graaf B., Olmer R., Elfferich P., Neijs S., Kariminejad R., Suheyl Ezgu F., Tokatli A., Czartoryska B., Bosschaart A.N., van den Bos-Terpstra F., Puissant H., Burger F., Omran H., Eckert D., Filocamo M., Simeonov E., Willems P.J., Wevers R.A., Niermeijer M.F., Halley D.J., Poorthuis B.J., van Diggelen O.P. Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations. Hum. Mutat. 2010, 31:E1348-E1360.
11. Vieira T., Schwartz I., Munoz V., Pinto L., Steiner C., Ribeiro M., Boy R., Ferraz V., de Paula A., Kim C., Acosta A., Giugliani R. Mucopolysaccharidoses in Brazil: what happens from birth to biochemical diagnosis?. Am. J. Med. Genet. A 2008, 146A:1741-1747.
12. de Ruijter J., Valstar M.J., Wijburg F.A. Mucopolysaccharidosis type III (Sanfilippo Syndrome): emerging treatment strategies. Curr. Pharm. Biotechnol. 2011, 12:923-930.
13. de Ruijter J., Valstar M.J., Narajczyk M., Wegrzyn G., Kulik W., Ijlst L., Wagemans T., van der Wal W.M., Wijburg F.A. Genistein in Sanfilippo disease: a randomized controlled crossover trial. Ann. Neurol. 2012, 71:110-120.
14. Guffon N., Bin-Dorel S., Decullier E., Paillet C., Guitton J., Fouilhoux A. Evaluation of miglustat treatment in patients with type III mucopolysaccharidosis: a randomized, double-blind, placebo-controlled study. J. Pediatr. 2011, 159:838-844. (e831).
15. Langford-Smith A., Wilkinson F.L., Langford-Smith K.J., Holley R.J., Sergijenko A., Howe S.J., Bennett W.R., Jones S.A., Wraith J., Merry C.L., Wynn R.F., Bigger B.W. Hematopoietic stem cell and gene therapy corrects primary neuropathology and behavior in mucopolysaccharidosis IIIA mice. Mol. Ther. 2012, 20:1610-1621.
16. Ben Turkia H., Tebib N., Azzouz H., Abdelmoula M.S., Ben Chehida A., Chemli J., Monastiri K., Chaabouni M., Sanhagi H., Zouari B., Kaabachi N., Ben Dridi M.F. Incidence of mucopolysaccharidoses in Tunisia. Tunis. Med. 2009, 87:782-785.
17. van de Kamp J.J., Niermeijer M.F., von Figura K., Giesberts M.A. Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C). Clin. Genet. 1981, 20:152-160.
18. Heron B., Mikaeloff Y., Froissart R., Caridade G., Maire I., Caillaud C., Levade T., Chabrol B., Feillet F., Ogier H., Valayannopoulos V., Michelakakis H., Zafeiriou D., Lavery L., Wraith E., Danos O., Heard J.M., Tardieu M. Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. Am. J. Med. Genet. A 2011, 155A:58-68.
19. Valstar M.J., Marchal J.P., Grootenhuis M., Colland V., Wijburg F.A. Cognitive development in patients with mucopolysaccharidosis type III (Sanfilippo syndrome). Orphanet J. Rare Dis. 2011, 6:43.
20. Fraser J., Wraith J.E., Delatycki M.B. Sleep disturbance in mucopolysaccharidosis type III (Sanfilippo syndrome): a survey of managing clinicians. Clin. Genet. 2002, 62:418-421.
21. Bax M.C., Colville G.A. Behaviour in mucopolysaccharide disorders. Arch. Dis. Child. 1995, 73:77-81.
22. Moog U., van Mierlo I., van Schrojenstein Lantman-de Valk H.M., Spaapen L., Maaskant M.A., Curfs L.M. Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems?. Am. J. Med. Genet. C: Semin. Med. Genet. 2007, 145C:293-301.
23. Malm G., Mansson J.E. Mucopolysaccharidosis type III (Sanfilippo disease) in Sweden: clinical presentation of 22 children diagnosed during a 30-year period. Acta Paediatr. 2010, 99:1253-1257.
24. Meyer A., Kossow K., Gal A., Muhlhausen C., Ullrich K., Braulke T., Muschol N. Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A). Pediatrics 2007, 120:e1255-e1261.
25. Moog U. Sanfilippo B in an elderly female psychiatric patient: a rare but relevant diagnosis in presenile dementia. Acta Psychiatr. Scand. 2010, 122:166. (Invited comment).
26. Berman E.R., Vered J., Bach G. A reliable spot test for mucopolysaccharidoses. Clin. Chem. 1971, 17:886-890.
27. Berry H.K., Spinanger J. A paper spot test useful in study of Hurler's syndrome. J. Lab. Clin. Med. 1960, 55:136-138.
28. Pennock C.A. A review and selection of simple laboratory methods used for the study of glycosaminoglycan excretion and the diagnosis of the mucopolysaccharidoses. J. Clin. Pathol. 1976, 29:111-123.
29. de Jong J.G., Hasselman J.J., van Landeghem A.A., Vader H.L., Wevers R.A. The spot test is not a reliable screening procedure for mucopolysaccharidoses. Clin. Chem. 1991, 37:572-575.
30. Chih-Kuang C., Shuan-Pei L., Shyue-Jye L., Tuen-Jen W. MPS screening methods, the Berry spot and acid turbidity tests, cause a high incidence of false-negative results in Sanfilippo and Morquio syndromes. J. Clin. Lab. Anal. 2002, 16:253-258.
31. Mabe P., Valiente A., Soto V., Cornejo V., Raimann E. Evaluation of reliability for urine mucopolysaccharidosis screening by dimethylmethylene blue and Berry spot tests. Clin. Chim. Acta 2004, 345:135-140.
32. Rattenbury J.M., Worthy E., Allen J.C. Screening tests for glycosaminoglycans in urine: experience from regional interlaboratory surveys. J. Clin. Pathol. 1988, 41:936-939.
33. Farndale R.W., Sayers C.A., Barrett A.J. A direct spectrophotometric microassay for sulfated glycosaminoglycans in cartilage cultures. Connect. Tissue Res. 1982, 9:247-248.
34. de Jong J.G., Wevers R.A., Laarakkers C., Poorthuis B.J. Dimethylmethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine: a rapid screening procedure for mucopolysaccharidoses. Clin. Chem. 1989, 35:1472-1477.
35. de Jong J.G., Heijs W.M., Wevers R.A. Mucopolysaccharidoses screening: dimethylmethylene blue versus alcian blue. Ann. Clin. Biochem. 1994, 31(Pt 3):267-271.
36. Whitley C.B., Ridnour M.D., Draper K.A., Dutton C.M., Neglia J.P. Diagnostic test for mucopolysaccharidosis. I. Direct method for quantifying excessive urinary glycosaminoglycan excretion. Clin. Chem. 1989, 35:374-379.
37. Civallero G., Bender F., Gomes A., Marasca G., Guidobono R., De Mari J., Burin M., Giugliani R. Reliable detection of mucopolysacchariduria in dried-urine filter paper samples. Clin. Chim. Acta 2013, 415:334-336.
38. Whiteman P. The quantitative determination of glycosaminoglycans in urine with Alcian Blue 8GX. Biochem. J. 1973, 131:351-357.
39. Bitter T., Muir H.M. A modified uronic acid carbazole reaction. Anal. Biochem. 1962, 4:330-334.
40. Manley G., Hawksworth J. Diagnosis of Hurler's syndrome in the hospital laboratory and the determination of its genetic type. Arch. Dis. Child. 1966, 41:91-96.
41. Pennock C.A. A modified screening test for glycosaminoglycan excretion. J. Clin. Pathol. 1969, 22:379-380.
42. Mahalingam K., Janani S., Priya S., Elango E.M., Sundari R.M. Diagnosis of mucopolysaccharidoses: how to avoid false positives and false negatives. Indian J. Pediatr. 2004, 71:29-32.
43. de Ruijter J., Ijlst L., Kulik W., van Lenthe H., Wagemans T., van Vlies N., Wijburg F.A. Heparan sulfate derived disaccharides in plasma and total urinary excretion of glycosaminoglycans correlate with disease severity in Sanfilippo disease. J. Inherit. Metab. Dis. 2013, 36:271-279.
44. Gallegos-Arreola M.P., Machorro-Lazo M.V., Flores-Martinez S.E., Zuniga-Gonzalez G.M., Figuera L.E., Gonzalez-Noriega A., Sanchez-Corona J. Urinary glycosaminoglycan excretion in healthy subjects and in patients with mucopolysaccharidoses. Arch. Med. Res. 2000, 31:505-510.
45. Albano L.M., Sugayama S.S., Bertola D.R., Andrade C.E., Utagawa C.Y., Puppi F., Nader H.B., Toma L., Coelho J., Leistner S., Burin M., Giugliani R., Chong A.K. Clinical and laboratorial study of 19 cases of mucopolysaccharidoses. Rev. Hosp. Clin. Fac. Med. Sao Paulo 2000, 55:213-218.
46. Piraud M., Boyer S., Mathieu M., Maire I. Diagnosis of mucopolysaccharidoses in a clinically selected population by urinary glycosaminoglycan analysis: a study of 2000 urine samples. Clin. Chim. Acta 1993, 221:171-181.
47. Byers S., Rozaklis T., Brumfield L.K., Ranieri E., Hopwood J.J. Glycosaminoglycan accumulation and excretion in the mucopolysaccharidoses: characterization and basis of a diagnostic test for MPS. Mol. Genet. Metab. 1998, 65:282-290.
48. Gray G., Claridge P., Jenkinson L., Green A. Quantitation of urinary glycosaminoglycans using dimethylene blue as a screening technique for the diagnosis of mucopolysaccharidoses: an evaluation. Ann. Clin. Biochem. 2007, 44:360-363.
49. Auray-Blais C., Bherer P., Gagnon R., Young S.P., Zhang H.H., An Y., Clarke J.T., Millington D.S. Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI. Mol. Genet. Metab. 2011, 102:49-56.
50. Zhang H., Young S.P., Millington D.S. Quantification of glycosaminoglycans in urine by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry. Curr. Protoc. Hum. Genet. 2013, (Chapter 17 Unit 17.12) 1-14, http://dx.doi.org/10.1002/0471142905.hg1712s76.
51. Auray-Blais C., Lavoie P., Zhang H., Gagnon R., Clarke J.T., Maranda B., Young S.P., An Y., Millington D.S. An improved method for glycosaminoglycan analysis by LC-MS/MS of urine samples collected on filter paper. Clin. Chim. Acta 2012, 413:771-778.
52. Lawrence R., Brown J.R., Lorey F., Dickson P.I., Crawford B.E., Esko J.D. Glycan-based biomarkers for mucopolysaccharidoses. Mol. Genet. Metab. 2014, 111:73-83.
53. Lawrence R., Brown J.R., Al-Mafraji K., Lamanna W.C., Beitel J.R., Boons G.J., Esko J.D., Crawford B.E. Disease-specific non-reducing end carbohydrate biomarkers for mucopolysaccharidoses. Nat. Chem. Biol. 2012, 8:197-204.
54. Hopwood J.J., Elliott H. Sulphamidase activity in leucocytes, cultured skin fibroblasts and amniotic cells: diagnosis of the Sanfilippo A syndrome with the use of radiolabelled disaccharide substrate. Clin. Sci. (Lond.) 1981, 61:729-735.
55. Elliott H., Hopwood J.J. Detection of the Sanfilippo D syndrome by the use of a radiolabeled monosaccharide sulfate as the substrate for the estimation of N-acetylglucosamine-6-sulfate sulfatase. Anal. Biochem. 1984, 138:205-209.
56. Hopwood J.J., Elliott H. Detection of the Sanfilippo type B syndrome using radiolabelled oligosaccharides as substrates for the estimation of alpha-N-acetylglucosaminidase. Clin. Chim. Acta 1982, 120:77-86.
57. He W., Voznyi Ya V., Boer A.M., Kleijer W.J., van Diggelen O.P. A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type D (MPS IIID). J. Inherit. Metab. Dis. 1993, 16:935-941.
58. Marsh J., Fensom A.H. 4-Methylumbelliferyl alpha-N-acetylglucosaminidase activity for diagnosis of Sanfilippo B disease. Clin. Genet. 1985, 27:258-262.
59. Karpova E.A., Voznyi Ya V., Keulemans J.L., Hoogeveen A.T., Winchester B., Tsvetkova I.V., van Diggelen O.P. A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type A (MPS IIIA). J. Inherit. Metab. Dis. 1996, 19:278-285.
60. Voznyi Ya V., Karpova E.A., Dudukina T.V., Tsvetkova I.V., Boer A.M., Janse H.C., van Diggelen O.P. A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease C (MPS III C). J. Inherit. Metab. Dis. 1993, 16:465-472.
61. Civallero G., Michelin K., de Mari J., Viapiana M., Burin M., Coelho J.C., Giugliani R. Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases. Clin. Chim. Acta 2006, 372:98-102.
62. Civallero G., De Mari J., Viapiana Camelier M., Burin M., Giugliani R. Assay of heparan-N-sulfamidase in dried leukocytes impregnated in filter paper: a new tool for the identification of Mucopolisaccharidosis IIIA and potentially other lysosomal disorders. Mol. Genet. Metab. 2013, 108:267-268.
63. Dierks T., Schlotawa L., Frese M.A., Radhakrishnan K., von Figura K., Schmidt B. Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - lysosomal storage disorders caused by defects of non-lysosomal proteins. Biochim. Biophys. Acta 2009, 1793:710-725.
64. Vance J.M., Conneally P.M., Wappner R.S., Yu P.L., Brandt I.K., Pericak-Vance M.A. Carrier detection in Sanfilippo syndrome type B: report of six families. Clin. Genet. 1981, 20:135-140.
65. Hopwood J.J., Muller V., Harrison J.R., Carey W.F., Elliott H., Robertson E.F., Pollard A.C. Enzymatic diagnosis of the mucopolysaccharidoses: experience of 96 cases diagnosed in a five-year period. Med. J. Aust. 1982, 1:257-260.
66. Piotrowska E., Jakobkiewicz-Banecka J., Tylki-Szymanska A., Czartoryska B., Wegrzyn A., Wegrzyn G. Correlation between severity of mucopolysaccharidoses and combination of the residual enzyme activity and efficiency of glycosaminoglycan synthesis. Acta Paediatr. 2009, 98:743-749.
67. Hopwood J.J. Prenatal diagnosis of Sanfilippo syndrome. Prenat. Diagn. 2005, 25:148-150.
68. Kleijer W.J., Karpova E.A., Geilen G.C., Keulemans J.L., Huijmans J.G., Tsvetkova I.V., Voznyi Ya V., van Diggelen O.P. Prenatal diagnosis of Sanfilippo A syndrome: experience in 35 pregnancies at risk and the use of a new fluorogenic substrate for the heparin sulphamidase assay. Prenat. Diagn. 1996, 16:829-835.
69. Wolfe B.J., Ghomashchi F., Kim T., Abam C.A., Sadilek M., Jack R., Thompson J.N., Scott C.R., Gelb M.H., Turecek F. New substrates and enzyme assays for the detection of mucopolysaccharidosis III (Sanfilippo Syndrome) types A, B, C, and D by tandem mass spectrometry. Bioconjug. Chem. 2012, 23:557-564.
70. Fletcher J., Wilcken B. Neonatal screening for lysosomal storage disorders. Lancet 2012, 379:294-295.
71. The Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff, Cardiff University 2003. (accessed 30 July 2014). http://www.hgmd.org/.
72. Schouten J.P., McElgunn C.J., Waaijer R., Zwijnenburg D., Diepvens F., Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 2002, 30:e57.
73. Yogalingam G., Hopwood J.J. Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: diagnostic, clinical, and biological implications. Hum. Mutat. 2001, 18:264-281.
74. Mollaki V., Progias P., Drogari E. Novel LDLR variants in patients with familial hypercholesterolemia: in silico analysis as a tool to predict pathogenic variants in children and their families. Ann. Hum. Genet. 2013, 77:426-434.
75. Zanetti A., Ferraresi E., Picci L., Filocamo M., Parini R., Rosano C., Tomanin R., Scarpa M. Segregation analysis in a family at risk for the Maroteaux-Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism. Eur. J. Hum. Genet. 2009, 17:1160-1164.
76. Chan A.O. Performance of in silico analysis in predicting the effect of non-synonymous variants in inherited steroid metabolic diseases. Steroids 2013, 78:726-730.
77. Whitley C.B., Spielmann R.C., Herro G., Teragawa S.S. Urinary glycosaminoglycan excretion quantified by an automated semimicro method in specimens conveniently transported from around the globe. Mol. Genet. Metab. 2002, 75:56-64.
78. Calonge N., Green N.S., Rinaldo P., Lloyd-Puryear M., Dougherty D., Boyle C., Watson M., Trotter T., Terry S.F., Howell R.R. Committee report: method for evaluating conditions nominated for population-based screening of newborns and children. Genet. Med. 2010, 12:153-159.
79. Metz T.F., Mechtler T.P., Orsini J.J., Martin M., Shushan B., Herman J.L., Ratschmann R., Item C.B., Streubel B., Herkner K.R., Kasper D.C. Simplified newborn screening protocol for lysosomal storage disorders. Clin. Chem. 2011, 57:1286-1294.
80. Mechtler T.P., Metz T.F., Muller H.G., Ostermann K., Ratschmann R., De Jesus V.R., Shushan B., Di Bussolo J.M., Herman J.L., Herkner K.R., Kasper D.C. Short-incubation mass spectrometry assay for lysosomal storage disorders in newborn and high-risk population screening. J. Chromatogr. B Analyt. Technol. Biomed. Life Sci. 2012, 908:9-17.
81. Han M., Jun S.H., Song S.H., Park K.U., Kim J.Q., Song J. Use of tandem mass spectrometry for newborn screening of 6 lysosomal storage disorders in a Korean population. Korean J. Lab. Med. 2011, 31:250-256.
82. Mechtler T.P., Stary S., Metz T.F., De Jesus V.R., Greber-Platzer S., Pollak A., Herkner K.R., Streubel B., Kasper D.C. Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. Lancet 2012, 379:335-341.
83. Khaliq T., Sadilek M., Scott C.R., Turecek F., Gelb M.H. Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis IVA. Clin. Chem. 2011, 57:128-131.
84. Chamoles N.A., Blanco M., Gaggioli D. Diagnosis of alpha-L-iduronidase deficiency in dried blood spots on filter paper: the possibility of newborn diagnosis. Clin. Chem. 2001, 47:780-781.
85. Gelb M.H., Turecek F., Scott C.R., Chamoles N.A. 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. 2006, 29:397-404.
86. Reuser A.J., Verheijen F.W., Bali D., van Diggelen O.P., Germain D.P., Hwu W.L., Lukacs Z., Muhl A., Olivova P., Piraud M., Wuyts B., Zhang K., Keutzer J. The use of dried blood spot samples in the diagnosis of lysosomal storage disorders - current status and perspectives. Mol. Genet. Metab. 2011, 104:144-148.
87. Elbin C.S., Olivova P., Marashio C.A., Cooper S.K., Cullen E., Keutzer J.M., Zhang X.K. The effect of preparation, storage and shipping of dried blood spots on the activity of five lysosomal enzymes. Clin. Chim. Acta 2011, 412:1207-1212.
88. Millington D.S., Sista R., Eckhardt A., Rouse J., Bali D., Goldberg R., Cotten M., Buckley R., Pamula V. Digital microfluidics: a future technology in the newborn screening laboratory?. Semin. Perinatol. 2010, 34:163-169.
89. Sista R.S., Eckhardt A.E., Wang T., Graham C., Rouse J.L., Norton S.M., Srinivasan V., Pollack M.G., Tolun A.A., Bali D., Millington D.S., Pamula V.K. Digital microfluidic platform for multiplexing enzyme assays: implications for lysosomal storage disease screening in newborns. Clin. Chem. 2011, 57:1444-1451.
90. Sista R.S., Wang T., Wu N., Graham C., Eckhardt A., Winger T., Srinivasan V., Bali D., Millington D.S., Pamula V.K. Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform. Clin. Chim. Acta 2013, 424:12-18.
91. Fuller M., Tucker J.N., Lang D.L., Dean C.J., Fietz M.J., Meikle P.J., Hopwood J.J. Screening patients referred to a metabolic clinic for lysosomal storage disorders. J. Med. Genet. 2011, 48:422-425.
92. Tomatsu S., Montano A.M., Oguma T., Dung V.C., Oikawa H., Gutierrez M.L., Yamaguchi S., Suzuki Y., Fukushi M., Barrera L.A., Kida K., Kubota M., Orii T. Validation of disaccharide compositions derived from dermatan sulfate and heparan sulfate in mucopolysaccharidoses and mucolipidoses II and III by tandem mass spectrometry. Mol. Genet. Metab. 2010, 99:124-131.
93. Hintze J.P., Tomatsu S., Fujii T., Montano A.M., Yamaguchi S., Suzuki Y., Fukushi M., Ishimaru T., Orii T. Comparison of liquid chromatography-tandem mass spectrometry and sandwich ELISA for determination of keratan sulfate in plasma and urine. Biomark. Insights 2011, 6:69-78.
94. de Ruijter J., de Ru M.H., Wagemans T., Ijlst L., Lund A.M., Orchard P.J., Schaefer G.B., Wijburg F.A., van Vlies N. Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III. Mol. Genet. Metab. 2012, 107:705-710.
95. The Consensus CDS Project Available at, (Accessed 29 March 2013). http://www.ncbi.nlm.nih.gov/CCDS/CcdsBrowse.cgi.
96. Cooper D.N., Krawczak M., Antonorakis S.E. The nature and mechanisms of human gene mutation. The Metabolic and Molecular Bases of Inherited Disease 1995, 259-291. McGraw-Hill, New York. C. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
97. Brady J., Trehan A., Landis D., Toro C. Mucopolysaccharidosis type IIIB (MPS IIIB) masquerading as a behavioural disorder. BMJ Case Rep. 2013.
98. Sharkia R., Mahajnah M., Zalan A., Sourlis C., Bauer P., Schols L. Sanfilippo type A: new clinical manifestations and neuro-imaging findings in patients from the same family in Israel: a case report. J. Med. Case Rep. 2014, 8:78.
99. Ku C.S., Naidoo N., Pawitan Y. Revisiting Mendelian disorders through exome sequencing. Hum. Genet. 2011, 129:351-370.
100. Ruijter G.J., Goudriaan D.A., Boer A.M., Van den Bosch J., Van der Ploeg A.T., Elvers L.H., Weinreich S.S., Reuser A.J. Newborn screening for Hunter disease: a small-scale feasibility study. JIMD Rep. 2013.
101. Lin S.P., Lin H.Y., Wang T.J., Chang C.Y., Lin C.H., Huang S.F., Tsai C.C., Liu H.L., Keutzer J., Chuang C.K. A pilot newborn screening program for mucopolysaccharidosis type I in Taiwan. Orphanet J. Rare Dis. 2013, 8:147.
102. Blanch L., Weber B., Guo X.H., Scott H.S., Hopwood J.J. Molecular defects in Sanfilippo syndrome type A. Hum. Mol. Genet. 1997, 6:787-791.
103. Weber B., van de Kamp J.J., Kleijer W.J., Guo X.H., Blanch L., van Diggelen O.P., Wevers R., Poorthuis B.J., Hopwood J.J. Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands. J. Inherit. Metab. Dis. 1998, 21:416-422.
104. Bunge S., Ince H., Steglich C., Kleijer W.J., Beck M., Zaremba J., van Diggelen O.P., Weber B., Hopwood J.J., Gal A. Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A). Hum. Mutat. 1997, 10:479-485.
105. Weber B., Guo X.H., Wraith J.E., Cooper A., Kleijer W.J., Bunge S., Hopwood J.J. Novel mutations in Sanfilippo A syndrome: implications for enzyme function. Hum. Mol. Genet. 1997, 6:1573-1579.
106. Di Natale P., Balzano N., Esposito S., Villani G.R. Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations. Hum. Mutat. 1998, 11:313-320.
107. Beesley C.E., Young E.P., Vellodi A., Winchester B.G. Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations. J. Med. Genet. 2000, 37:704-707.
108. Meyer A., Kossow K., Gal A., Steglich C., Muhlhausen C., Ullrich K., Braulke T., Muschol N. The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome). Hum. Mutat. 2008, 29:770.
109. Weber B., Guo X.H., Kleijer W.J., van de Kamp J.J., Poorthuis B.J., Hopwood J.J. Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. Eur. J. Hum. Genet. 1999, 7:34-44.