Monitoring Dose Response of Enzyme Replacement Therapy in Feline Mucopolysaccharidosis Type VI by Tandem Mass Spectrometry

Pediatric Research

Volumn 55, Issue 4, 2004, Pages 585-591

  Crawley, Allison ^a   Ramsay, Steven L ^a   Byers, Sharon ^a,b   Hopwood, John J ^a,b   Meikle, Peter J ^a,b  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

DISACCHARIDE; GLYCOSAMINOGLYCAN; MONOSACCHARIDE; N ACETYLGLUCOSAMINE 6 SULFATE; N ACETYLHEXOSAMINE; N ACETYLHEXOSAMINURONIC ACID; OLIGOSACCHARIDE; RECOMBINANT ENZYME; RECOMBINANT FELINE 4 SULFATASE; SULFATASE; UNCLASSIFIED DRUG; URONIC ACID;

ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CAT; CONTROLLED STUDY; DOSE RESPONSE; DRUG MEGADOSE; ELECTROSPRAY MASS SPECTROMETRY; ENZYME PURIFICATION; ENZYME REPLACEMENT; GENETIC DISORDER; HISTOLOGY; INTERMETHOD COMPARISON; LOW DRUG DOSE; LYSOSOME STORAGE DISEASE; MAROTEAUX LAMY SYNDROME; MASS SPECTROMETRY; MONITORING; MUCOPOLYSACCHARIDOSIS; NONHUMAN; PRIORITY JOURNAL; TANDEM MASS SPECTROMETRY; TREATMENT OUTCOME; URINALYSIS;

ANIMALS; CATS; DOSE-RESPONSE RELATIONSHIP, DRUG; GLYCOSAMINOGLYCANS; HUMANS; MUCOPOLYSACCHARIDOSIS VI; N-ACETYLGALACTOSAMINE-4-SULFATASE; OLIGOSACCHARIDES; RECOMBINANT PROTEINS; SPECTROMETRY, MASS, ELECTROSPRAY IONIZATION;

EID: 1642447923     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/01.PDR.0000113789.30640.5C     Document Type: Article

References (31)

1. Hopwood JJ, Brooks DA 1997 An introduction to the basic science and biology of the lysosome and storage diseases. In: Applegarth DA, Dimmick JE, Hall JG (eds) Organelle Diseases. Chapman and Hall Medical, London, pp 7-36
2. Meikle PJ, Hopwood JJ, Clague AE, Carey WF 1999 Prevalence of lysosomal storage disorders. JAMA 281:249-254
3. Barton NW, Brady RO, Dambrosia JM, Di Bisceglie AM, Doppelt SH, Hill SC, Mankin HJ, Murray GJ, Parker RI, Argoff CE 1991 Replacement therapy for inherited enzyme deficiency-macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med 324:1464-1470
4. Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, Caplan L, Linthorst GE, Desnick RJ 2001 Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease. N Engl J Med 345:9-16
5. Kakkis ED, Muenzer J, Tiller GE, Waber L, Belmont J, Passage M, Izykowski B, Phillips J, Doroshow R, Walot I, Hoft R, Neufeld EF 2001 Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med 344:182-188
6. Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, Pastores G, Rosenbloom BE, Scott CR, Wappner RS, Zimran A 2002 Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Am J Med 113:112-119
7. Van den Hout H, Reuser AJ, Vulto AG, Loonen MC, Cromme-Dijkhuis A, Van der Ploeg AT 2000 Recombinant human alpha-glucosidase from rabbit milk in Pompe patients. Lancet 356:397-398
8. Harmatz P, Whitley CB, Belani K, Waber L, Pais R, Steiner R, Plecko B, Simon J, Thompson J, Waterson J, Lammer E, Rowe R, Koseglu S, Cohen R, Rosenfeld H, Gutierrez H, Hopwood JJ 2001 A phase I/II randomised, double blind, two dose group study of recombinant human N-acetylgalactosamine-4-sulfatase (rhASB) enzyme replacement therapy in patients with mucopolysaccharidosis (MPS) VI (Maroteaux-Lamy syndrome). Am J Hum Genet 69(suppl 4):2896
9. Cabrera-Salazar MA, Novelli E, Barranger JA 2002 Gene therapy for the lysosomal storage disorders. Curr Opin Mol Ther 4:349-358
10. Desnick RJ, Schuchman EH 2002 Enzyme replacement and enhancement therapies: lessons from lysosomal disorders. Nat Rev Genet 3:954-966
11. Shull RM, Kakkis ED, McEntee MF, Kania SA, Jonas AJ, Neufeld EF 1994 Enzyme replacement in a canine model of Hurler syndrome. Proc Natl Acad Sci U S A 91:12937-12941
12. Kakkis ED, McEntee MF, Schmidtchen A, Neufeld EF, Ward DA, Gompf RE, Kania S, Bedolla C, Chien SL, Shull RM 1996 Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I. Biochem Mol Med 58:156-167
13. Kakkis ED, Schuchman E, He X, Wan Q, Kania S, Wiemelt S, Hasson CW, O'Malley T, Weil MA, Aguirre GA, Brown DE, Haskins ME 2001 Enzyme replacement therapy in feline mucopolysaccharidosis I. Mol Genet Metab 72:199-208
14. Crawley AC, Brooks DA, Muller VJ, Petersen BA, Isaac EL, Bielicki J, King BM, Boulter CD, Moore AJ, Fazzalari NL, Anson DS, Byers S, Hopwood JJ 1996 Enzyme replacement therapy in a feline model of Maroteaux-Lamy syndrome. J Clin Invest 97:1864-1873
15. Byers S, Nuttall JD, Crawley AC, Hopwood JJ, Smith K, Fazzalari NL 1997 Effect of enzyme replacement therapy on bone formation in a feline model of mucopolysaccharidosis type VI. Bone 21:425-431
16. Crawley AC, Niedzielski KH, Isaac EL, Davey RC, Byers S, Hopwood JJ 1997 Enzyme replacement therapy from birth in a feline model of mucopolysaccharidosis type VI. J Clin Invest 99:651-662
17. Vogler C, Sands M, Higgins A, Levy B, Grubb J, Birkenmeier EH, Sly WS 1993 Enzyme replacement with recombinant beta-glucuronidase in the newborn mucopolysaccharidosis type VII mouse. Pediatr Res 34:837-840
18. Sands MS, Vogler C, Kyle JW, Grubb JH, Levy B, Galvin N, Sly WS, Birkenmeier EH 1994 Enzyme replacement therapy for murine mucopolysaccharidosis type VII. J Clin Invest 93:2324-2331
19. Vogler C, Sands MS, Levy B, Galvin N, Birkenmeier EH, Sly WS 1996 Enzyme replacement with recombinant beta-glucuronidase in murine mucopolysaccharidosis type VII: impact of therapy during the first six weeks of life on subsequent lysosomal storage, growth, and survival. Pediatr Res 39:1050-1054
20. Byers S, Rozaklis T, Brumfield LK, Ranieri E, Hopwood JJ 1998 Glycosaminoglycan accumulation and excretion in the mucopolysaccharidoses: characterization and basis of a diagnostic test for MPS. Mol Genet Metab 65:282-290
21. Ramsay SL, Meikle PJ, Hopwood JJ 2003 Determination of monosaccharides and disaccharides in mucopblysaccharidoses patients by electrospray ionisation mass spectrometry. Mol Genet Metab 78:193-204
22. Bielicki J, Crawley AC, Davey RC, Varnai JC, Hopwood JJ 1999 Advantages of using same species enzyme for replacement therapy in a feline model of mucopolysaccharidosis type VI. J Biol Chem 274:36335-36343
23. Crawley AC, Yogalingam G, Muller VJ, Hopwood JJ 1998 Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes. J Clin Invest 101:109-119
24. Yogalingam G, Litjens T, Bielicki J, Crawley AC, Muller V, Anson DS, Hopwood JJ 1996 Feline mucopolysaccharidosis type VI. Characterization of recombinant N-acetylgalactosamine 4-sulfatase and identification of a mutation causing the disease. J Biol Chem 271:27259-27265
25. Whitley CB, Ridnour MD, Draper KA, Dutton CM, Neglia JP 1989 Diagnostic test for mucopolysaccharidosis. I. Direct method for quantifying excessive urinary glycosaminoglycan excretion. Clin Chem 35:374-379
26. Whitley CB, Spielmann RC, Herro G, Teragawa SS 2002 Urinary glycosaminoglycan excretion quantified by an automated semimicro method in specimens conveniently transported from around the globe. Mol Genet Metab 75:56-64
27. Hopwood JJ, Elliott H 1983 Isolation and characterization of N-acetylglucosamine 6-sulfate from the urine of a patient with Sanfilippo type D syndrome and its occurrence in normal urine. Biochem Int 6:831-836
28. Hopwood JJ, Elliott H 1985 Urinary excretion of sulphated N-acetylhexosamines in patients with various mucopolysaccharidoses. Biochem J 229:579-586
29. Frost GI, Csoka T, Stern R 1996 The hyaluronidases: a chemical, biological and clinical overview. Trends Glycosci Glycotechnol 8:419-434
30. Triggs-Raine B, Salo TJ, Zhang H, Wicklow BA, Natowicz MR 1999 Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX. Proc Natl Acad Sci U S A 96:6296-6300
31. Yared A, Ichikawa I 1994 Pediatric Nephrology, 3rd Ed. Williams and Wilkins, Baltimore, pp 74