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Combined Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation in Mucopolysacharidosis Type VI

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Part of the book series: JIMD Reports ((JIMD,volume 2))

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.

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Abbreviations

CPAP:

Continuous positive airway pressure

ERT:

Enzyme replacement therapy

GAGS:

Glycosaminoglycans

HSCT:

Hematopoietic stem cell transplantation

MPS:

Mucopolysaccharidosis

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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.

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Authors and Affiliations

  1. Western Sydney Genetics Program, The Children’s Hospital at Westmead, 4001, Westmead, Sydney, 2145, NSW, Australia

    C Ellaway

  2. Discipline of Genetic Medicine, University of Sydney, Sydney, NSW, Australia

    D Sillence

  3. Department of Respiratory Medicine, The Children’s Hospital at Westmead, Sydney, NSW, Australia

    K Waters

  4. Physiotherapy Department, The Children’s Hospital at Westmead, Sydney, NSW, Australia

    S Donaldson

  5. Department of Oncology, The Children’s Hospital at Westmead, Sydney, NSW, Australia

    P J Shaw

Authors
  1. D Sillence
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  2. K Waters
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  3. S Donaldson
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  4. P J Shaw
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  5. C Ellaway
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Corresponding author

Correspondence to C Ellaway .

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    Communicated by: Ed Wraith.

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    © 2011 SSIEM and Springer-Verlag Berlin Heidelberg

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    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

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    • DOI: https://doi.org/10.1007/8904_2011_56

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    • Publisher Name: Springer, Berlin, Heidelberg

    • Print ISBN: 978-3-642-24757-6

    • Online ISBN: 978-3-642-24758-3

    • eBook Packages: MedicineMedicine (R0)

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