Correlation between severity of mucopolysaccharidoses and combination of the residual enzyme activity and efficiency of glycosaminoglycan synthesis

Acta Paediatrica, International Journal of Paediatrics

Volumn 98, Issue 4, 2009, Pages 743-749

  Piotrowska, Ewa ^a   Jakóbkiewicz Banecka, Joanna ^a   Tylki Szymańska, Anna ^b   Czartoryska, Barbara ^c   Wȩgrzyn, Alicja ^a   Wȩgrzyn, Grzegorz ^a  

^a UNIVERSITY OF GDA SK   (Poland)

^b CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^c INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

Author keywords

Clinical progress of the disease; Glycosaminoglycan synthesis; Mucopolysaccharidoses; Residual enzyme activity; Severity of the disease

Indexed keywords

GLYCOSAMINOGLYCAN;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; ENZYME ACTIVITY; FEMALE; FIBROBLAST; GENE MUTATION; GLYCOSAMINOGLYCAN METABOLISM; HUMAN; HUMAN CELL; HUMAN TISSUE; HUNTER SYNDROME; MALE; MUCOPOLYSACCHARIDOSIS; PATIENT IDENTIFICATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROGNOSIS; SANFILIPPO SYNDROME; SCHOOL CHILD; URINARY EXCRETION;

ADOLESCENT; BIOLOGICAL MARKERS; CHILD; CHILD, PRESCHOOL; ENZYME ACTIVATION; FEMALE; FIBROBLASTS; GLYCOSAMINOGLYCANS; HUMANS; LEUKOCYTES; MALE; MUCOPOLYSACCHARIDOSES; MUTATION; PHENOTYPE; PROGNOSIS;

EID: 61849185347     PISSN: 08035253     EISSN: 16512227     Source Type: Journal    
DOI: 10.1111/j.1651-2227.2008.01153.x     Document Type: Article

References (30)

1. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In : Scriver CR, Beaudet AL, Sly WS, et al., editor. The metabolic and molecular bases of inherited disease. New York : McGraw-Hill Co, 2001 : 3421 52.
2. Bunge S, Kleijer WJ, Steglich C, Beck M, Zuther C, Morris CP, et al. Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common α-L-iduronidase mutations (W402X and Q70X) among European patients. Hum Mol Genet 1994 3 : 861 6.
3. Beesley CE, Meaney CA, Greenland G, Adams V, Vellodi A, Young EP, et al. Mutation analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations. Hum Genet 2001 109 : 503 11.
4. McDowell GA, Cowan TM, Blitzer MG, Greene CL : Intrafamiliar variability in Hurler syndrome and Sanfilippo syndrome type A: implications for evolution of new therapies. Am J Med Genet 1993 47 : 1092 5.
5. Tylki-Szymańska A, Czartoryska B, Bunge S, van Diggelen OP, Kleijer WJ, Poorthuis BJ, et al. Clinical, biochemical and molecular findings in a two-generation Morquio A family. Clin Genet 1998 53 : 369 74.
6. Tomatsu S, Dieter T, Schwartz IV, Sarmient P, Giugliani R, Barrera LA, et al. Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate. J Hum Genet 2004 49 : 490 4.
7. Tomatsu S, Montaño AM, Lopez P, Trandafirescu G, Gutierrez MA, Oikawa H, et al. Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene. Mol Genet Metab 2006 89 : 139 49.
8. Fuller M, Brooks DA, Evangelista M, Hein LK, Hopwood JJ, Meikle PJ. Prediction of neuropathology in mucopolysaccharidosis I patients. Mol Genet Metab 2005 84 : 18 24.
9. Meyer A, Kossow K, Gal A, Mühlhausen C, Ullrich K, Braulke T, et al. Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A). Pediatrics 2007 120 : e1255 61.
10. Weber B, Guo XH, Kleijer WJ, van de Kamp JJ, Poorthuis BJ, Hopwood JJ. 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.
11. Beesley CE, Jackson M, Young EP, Vellodi A, Winchester BG. Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB). J Inherit Metab Dis 2005 28 : 759 67.
12. Ruijter GJ, Valstar MJ, van de Kamp JM, van der Helm RM, Durand S, van Diggelen OP, et al. Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. Mol Genet Metab 2008 93 : 104 11.
13. Zhao HG, Aronovich EL, Whitley CB. Genotype-phenotype correspondence in Sanfilippo syndrome type B. Am J Hum Genet 1998 62 : 53 63.
14. Perkins KJ, Muller V, Weber B, Hopwood JJ. Prediction of Sanfilippo phenotype severity from immunoquantification of heparan-N-sulfamidase in cultured fibroblasts from mucopolysaccharidosis type IIIA patients. Mol Genet Metab 2001 73 : 306 12.
15. Froissart R, Da Silva IM, Maire I. Mucopolysaccharidosis type II: an update on mutation spectrum. Acta Paediatr Suppl 2007 96 : 71 7.
16. Wȩgrzyn G, Wȩgrzyn A, Tylki-Szymańska A. A general model for genetic regulation of turnover of glycosaminoglycans suggests a possible procedure for prediction of severity and clinical progress of mucopolysaccharidoses. Med Hypoth 2004 62 : 986 92.
17. Malinowska M, Jakóbkiewicz-Banecka J, Kloska A, Tylki-Szymańska A, Czartoryska B, Piotrowska E, et al. Abnormalities in the hair morphology of patients with some but not all types of mucopolysaccharidoses. Eur J Pediatr 2008 167 : 203 9.
18. Voznyi YV, Keulemans JL, van Diggelen OP. A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease). J Inherit Metab Dis. 2001 24 : 675 80.
19. Karpova EA, Voznyi YaV, Keulemans JL, Hoogeveen AT, Winchester B, Tsvetkova IV, et al. A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type A (MPS IIIA). J Inherit Metab Dis 1996 19 : 278 85.
20. Von Figura K, Kresse H. Sanfilippo disease type B: presence of material cross reacting with antibodies against alpha-N-acetylglucosaminidase. Eur J Biochem 1976 61 : 581 8.
21. Frankenburg WK, Dodds JB, Fandal A. The revised Denver developmental screening test manual. Denver, CO : University of Colorado Press, 1970.
22. Bunge S, Steglich C, Zuther C, Beck M, Morris P, Schwinger E, et al. Iduronate-2-sulfatase gene mutations in 16 patients with mucopolysaccharidosis type II (Hunter syndrome). Hum Mol Genet 1993 2 : 1871 5.
23. Rathmann M, Bunge S, Steglich C, Schwinger E, Gal A. Evidence for an iduronate-sulfatase pseudogene near the functional Hunter syndrome gene in Xq273-q28. Hum Genet 1995 95 : 34 8.
24. Murata M, Bonassar LJ, Wright M, Mankin HJ, Towle CA. A role for the interleukin-1 receptor in the pathway linking static mechanicla compression to decreased proteoglycan synthesis in surface articular cartilage. Arch Biochem Biophys 2003 413 : 229 35.
25. Scott JE. Aliphatic ammonium salts in the assay of acidic polysaccharides from tissues. Methods Biochem Anal 1960 8 : 145 97.
26. Barbosa I, Garcia S, Barbier-Chassefiere V, Caruelle JP, Martelly I, Papy-Garcia D. Improved and simple micro assay for sulfated glycosaminoglycans quantification in biological extracts and its use in skin and muscle tissue studies. Glycobiology 2003 13 : 647 53.
27. Kato M, Takeda S, Ogawara S, Takayama S. Effect of levofloxacin on glycosaminoglycan and DNA synthesis of cultured rabbit chondrocytes at concentrations inducing cartilage lesions in vivo. Antimicrob Agents Chemother 1995 39 : 1979 83.
28. Leinekugel P, Michel S, Conzelmann E, Sandhoff K. Quantitative correlation between the residual activity of β-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease. Hum Genet 1992 88 : 513 23.
29. Grobe K, Esko JD. Regulated translation of heparan sulfate N-acetylglucosamine deacetylase/N-sulfotranferase isozymes by structured 5′-untranslated regions and internal ribosome entry sites. J Biol Chem 2002 277 : 30699 706.
30. Dunnen JT, Antonarakis E. Nomenclature for the description of human sequence variations. Hum Genet 2001 109 : 121 4.