Abstract
Mucopolysaccharidosis type VI, Maroteaux–Lamy syndrome is a lysosomal storage disorder with progressive, multisystem involvement caused by deficiency of the lysosomal enzyme N-acetylgalactosamine-4-sulfatase leading to accumulation of the glycosaminoglycan, keratan sulfate. Enzyme replacement therapy (ERT) has been shown to clinically benefit affected individuals. A combined treatment regime of ERT and hemopoietic stem cell transplantation (HSCT) has led to reduced morbidity and mortality in patients with MPS I. We have demonstrated that a treatment regime of ERT combined with HSCT in a 3-year-old girl with MPS VI provided similar benefit. This treatment regimen should be considered in the management of selected patients with MPS VI. Neither HSCT nor ERT can correct or completely prevent progression of the musculoskeletal complications. Long-term follow-up and regular assessments for these complications is necessary.
Competing interests: None declared.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Similar content being viewed by others
Abbreviations
- CPAP:
-
Continuous positive airway pressure
- ERT:
-
Enzyme replacement therapy
- GAGS:
-
Glycosaminoglycans
- HSCT:
-
Hematopoietic stem cell transplantation
- MPS:
-
Mucopolysaccharidosis
References
Bijarnia S, Shaw P, Vimpani A et al (2009) Combined enzyme replacement and haematopoietic stem cell transplantation in Hurler syndrome. J Paediatr Child Health 45:469–472
Clarke L, Wraith J, Beck M et al (2009) Long-term efficiacy and safety of laronidase in the treatment of mucopolysacchariodosis I. Pediatrics 123:229–240
Cox-Brinkman J, Boelens J, Wraith J et al (2006) Haematopoietic stem cell transplantation (HCT) in combination with enzyme replacement therapy (ERT) in patients with Hurler syndrome. Bone Marrow Transplant 38:17–21
Grewal S, Wynn R, Abdenur J et al (2005) Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in hurler syndrome. Genet Med 7(2):143–146
Giugliani R, Hamartz P, Wraith J (2007) Management guidelines for mucopolysaccharidosis VI. Pediatrics 120:405–418
Harmatz P, Giugliani R, Schwartz I et al (2008) Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidodis VI: final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase. Mol Genet Metab 98:469–475
Muenzner J, Wraith J, Clarke L (2009) The international consensus panel on the management and treatment of mucopolysaccharidosis type I. Mucopolysaccharodosis I: management and treatment guideline. Pediatrics 123:19–29
Tolar J, Grewal S, Bjoraker K, et al (2008) Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome. Bone Marrow Transplantation 41:531–535
Turbeville S, Nicely H, Rizzo JD et al (2011) Clinical outcomes following hematopoietic stem cell transplantation for the treatment of mucopolysaccharidosis VI. Mol Genet Metab 102(2):111–115
Valayannopoulos V, Nicely H, Harmatz P, Turbeville S (2010) Mucopolysaccharidosis VI. Orphanet J Rare Dis 5:5
Wynn R, Mercer J, Page J et al (2009) Use of enzyme replacement therapy (laronidase) before hematopoietic stem cell transplantation for mucopolysaccharidosis I: experience in 18 patients. J Pediatr 154:135–139
Acknowledgments
The authors thank Dr Michael Fietz, National Reference laboratory for Lysosomal Disorders, Adelaide, South Australia for Enzyme and Mutation Analysis and Dr Kevin Carpenter, Biochemical Genetics, Sydney Children’s Hospital Network (Westmead) for serial GAG analysis.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Additional information
Communicated by: Ed Wraith.
Rights and permissions
Copyright information
© 2011 SSIEM and Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Sillence, D., Waters, K., Donaldson, S., Shaw, P.J., Ellaway, C. (2011). Combined Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation in Mucopolysacharidosis Type VI. In: JIMD Reports - Case and Research Reports, 2011/2. JIMD Reports, vol 2. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2011_56
Download citation
DOI: https://doi.org/10.1007/8904_2011_56
Received:
Revised:
Accepted:
Published:
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-24757-6
Online ISBN: 978-3-642-24758-3
eBook Packages: MedicineMedicine (R0)