Heparan sulfate derived disaccharides in plasma and total urinary excretion of glycosaminoglycans correlate with disease severity in Sanfilippo disease

Journal of Inherited Metabolic Disease

Volumn 36, Issue 2, 2013, Pages 271-279

  De Ruijter, J ^a   Ijlst, L ^a   Kulik, W ^a   Van Lenthe, H ^a   Wagemans, T ^a   Van Vlies, N ^a   Wijburg, F A ^a,b  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CREATININE; DISACCHARIDE; GLYCOSAMINOGLYCAN; HEPARAN SULFATE;

ADOLESCENT; ADULT; AGE; AGED; ARTICLE; BLOOD ANALYSIS; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; CROSS-SECTIONAL STUDY; DISEASE SEVERITY; FEMALE; GAIT DISORDER; GENE MUTATION; HUMAN; MALE; PREDICTIVE VALUE; PRESCHOOL CHILD; RECEIVER OPERATING CHARACTERISTIC; SANFILIPPO SYNDROME; SCHOOL CHILD; SPEECH DISORDER; URINALYSIS; BLOOD; MIDDLE AGED; PATHOLOGY; URINE; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; DISACCHARIDES; FEMALE; GLYCOSAMINOGLYCANS; HEPARITIN SULFATE; HUMANS; MALE; MIDDLE AGED; MUCOPOLYSACCHARIDOSIS III; YOUNG ADULT;

EID: 84879695503     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-012-9535-5     Document Type: Article

References (41)

1. Baehner F, Schmiedeskamp C, Krummenauer F et al (2005) Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis 28:1011-1017
2. Ben Turkia H, Tebib N, Azzouz H et al (2009) Incidence of mucopolysaccharidoses in Tunisia. Tunis Med 87:782-785
3. Cengiz N, Baskin E, Anarat R et al (2005) Glycosaminoglycans in childhood urinary tract infections. Pediatr Nephrol 20:937-939
4. Clarke LA, Hemmelgarn H, Colobong K et al (2012) Longitudinal observations of serum heparin cofactor II-thrombin complex in treated Mucopolysaccharidosis I and II patients. J Inherit Metab Dis 35:355-362
5. de Jong JG, Wevers RA, Laarakkers C, Poorthuis BJ (1989) Dimethylmethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine: a rapid screening procedure for mucopolysaccharidoses. Clin Chem 35:1472-1477
6. de Jong JG, Wevers RA, Liebrand-van SR (1992) Measuring urinary glycosaminoglycans in the presence of protein: an improved screening procedure for mucopolysaccharidoses based on dimethylmethylene blue. Clin Chem 38:803-807
7. de Ruijter J, Valstar MJ, Narajczyk M et al (2012) Genistein in Sanfilippo disease: a randomized controlled crossover trial. Ann Neurol 71:110-120
8. Delgadillo V, O'Callaghan MM, Artuch R, Montero R, Pineda M (2011) Genistein supplementation in patients affected by Sanfilippo disease. J Inherit Metab Dis 34:1039-1044
9. Di Natale P, Di Domenico C, Di Napoli D (2010) Serum MIP-1 alpha level: a biomarker for the follow-up of lentiviral therapy in mucopolysaccharidosis IIIB mice. J Inherit Metab Dis 33:159-165
10. Ellinwood NM, Ausseil J, Desmaris N et al (2011) Safe, efficient, and reproducible gene therapy of the brain in the dog models of Sanfilippo and Hurler syndromes. Mol Ther 19:251-259
11. Erickson RP, Sandman R, Epstein CJ (1975) Lack of relationship between blood and urine levels of glycosaminoglycans and lysomal enzymes. Biochem Med 12:331-339
12. Fedele AO, Hopwood JJ (2010) Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome). Hum Mutat 31:E1574-E1586
13. Feldhammer M, Durand S, Mrazova L et al (2009) Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. Hum Mutat 30:918-925
14. Glamuzina E, Fettes E, Bainbridge K et al (2011) Treatment of mucopolysaccharidosis type II (Hunter syndrome) with idursulfase: the relevance of clinical trial end points. J Inherit Metab Dis 34:749-754
15. Harmatz P, Giugliani R, Schwartz I et al (2006) Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study. J Pediatr 148:533-539
16. Hendriksz CJ, Giugliani R, Harmatz P et al (2011) Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP). J Inherit Metab Dis. doi: 10.1007/s10545-011-9410-9
17. Heron B, Mikaeloff Y, Froissart R et al (2011) Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. Am J Med Genet A 155A:58-68
18. Hopwood J (2007) Sanfilippo Syndrome: Clinical genetic diagnosis and therapies. Chapter 26. In J. Barranger, Lysosomal Storage Disorders. Springer, Berlin, 415-432
19. Kaplan D, Meyer K (1962) The fate of injected mucopolysac-charides. J Clin Invest 41:743-749
20. Langford-Smith KJ, Mercer J, Petty J et al (2011) Heparin cofactor II-thrombin complex and dermatan sulphate:chondroitin sulphate ratio are biomarkers of short- and long-term treatment effects in mucopolysaccharide diseases. J Inherit Metab Dis 34:499-508
21. Malinová V, Wegrzyn G, Narajczyk M (2012) The Use of Elevated Doses of Genistein-Rich Soy Extract in the Gene Expression-Targeted Isoflavone Therapy for Sanfilippo Disease Patients. J Inherit Metab Dis 5:21-25
22. Meikle PJ, Hopwood JJ, Clague AE, Carey WF (1999) Prevalence of lysosomal storage disorders. JAMA 281:249-254
23. Muenzer J, Gucsavas-Calikoglu M, McCandless SE, Schuetz TJ, Kimura A (2007) A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome). Mol Genet Metab 90:329-337
24. Muschol N, Pohl S, Meyer A, Gal A, Ullrich K, Braulke T (2011) Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome. Am J Med Genet A 155A:1634-1639
25. Narajczyk M, Tylki-Szymanska A, Wegrzyn G (2012) Changes in hair morphology as a biomarker in gene expression-targeted isoflavone therapy for Sanfilippo disease. Gene 504:292-295
26. Ohmi K, Kudo LC, Ryazantsev S, Zhao HZ, Karsten SL, Neufeld EF (2009) Sanfilippo syndrome type B, a lysosomal storage disease, is also a tauopathy. Proc Natl Acad Sci U S A 106:8332-8337
27. Perkins KJ, Muller V, Weber B, Hopwood JJ (2001) Prediction of Sanfilippo phenotype severity from immunoquantification of heparan-N-sulfamidase in cultured fibroblasts from mucopolysaccharidosis type IIIA patients. Mol Genet Metab 73:306-312
28. Pinto R, Caseiro C, Lemos M et al (2004) Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet 12:87-92
29. Piotrowska E, Jakobkiewicz-Banecka J, Tylki-Szymanska A et al (2008) Genistin-rich soy isoflavone extract in substrate reduction therapy for sanfilippo syndrome: an open-label, pilot study in 10 pediatric patients. Curr Ther Res Clin Exp 69:166-179
30. Poorthuis BJ, Wevers RA, Kleijer WJ et al (1999) The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 105:151-156
31. Poupetova H, Ledvinova J, Berna L, Dvorakova L, Kozich V, Elleder M (2010) The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations. J Inherit Metab Dis 33:387-396
32. Ruijter GJ, Valstar MJ, van de Kamp JM et al (2008) Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. Mol Genet Metab 93:104-111
33. Valstar MJ, Bertoli-Avella AM, Wessels MW et al (2010a) Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations. Hum Mutat 31:E1348-E1360
34. Valstar MJ, Bruggenwirth HT, Olmer R et al (2010b) Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype. J Inherit Metab Dis 33:759-767
35. Valstar MJ, Neijs S, Bruggenwirth HT et al (2010c) Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations. Ann Neurol 68:876-887
36. van de Kamp JJ, von Niermeijer MFFK, Giesberts MA (1981) Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C). Clin Genet 20:152-160
37. Weber B, Guo XH, Kleijer WJ, van de Kamp JJ, Poorthuis BJ, Hopwood JJ (1999) Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes. Eur J Hum Genet 7:34-44
38. Wegrzyn A (2012) Gene expression-targeted isoflavone therapy. IUBMB Life 64:307-315
39. Wraith JE (2005) The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I. Expert Opin Pharmacother 6:489-506
40. Wraith JE, Clarke LA, Beck M et al (2004) Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). J Pediatr 144:581-588
41. Yogalingam G, Hopwood JJ (2001) Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications. Hum Mutat 18:264-281