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JIMD Reports, Volume 30 pp 7–14Cite as

Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux–Lamy Syndrome

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Part of the book series: JIMD Reports ((JIMD,volume 30))

Abstract

Mucopolysaccharidosis type VI (MPS VI) is a progressive, autosomal, recessive lysosomal disorder. This disorder, due to a deficiency in N-acetylgalactosamine-4-sulfatase (ASB), results in an accumulation of glycosaminoglycan (GAG), causing multiple organ failures. In this study, monochorionic biamniotic twins with the severe form of MPS VI underwent enzyme replacement therapy (ERT) with weekly infusions of recombinant human ASB (galsulfase) at 1 mg/kg. After 9 years of ERT, a comprehensive clinical examination was performed. Several types of biochemical, immunological, and genetic investigations were also conducted. Both twins showed the typical symptoms and signs of MPS VI at baseline, including short stature, progressive dysmorphic facial features, and dysostosis multiplex. Twin 2 presented stronger multisystemic involvement, with marked musculoskeletal, neurological, and odontological components. She also developed an ischemic spinal cord lesion after surgery, which is the first case described in the literature in Maroteaux–Lamy syndrome. However, the extent of disease was found to be equally stabilized in the two sisters, concretely the cardiac and respiratory functions and body length. The early diagnosis and treatment of MPS VI are critical for an optimal clinical outcome, and further evidence for the new treatment strategies is needed.

Competing interests: None declared

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Acknowledgments

Scientific editorial assistance was provided by Irantzu Izco-Basurko and Fernando Rico-Villademoros (Cociente S.L.). The authors thank the family for their collaboration.

Author information

Authors and Affiliations

  1. Fundación y Servicio de Neuropediatría, Hospital Universitario Sant Joan de Déu, CIBERER, Barcelona, Spain

    M. Pineda & M. O’Callaghan

  2. Servicio de pediatría, Hospital Sant Joan de Déu, Universidad de Barcelona, Barcelona, Spain

    A. Fernandez Lopez

  3. Sección Errors Congènits, Servei de Bioquímica i Genètica Molecular, Hospital Clinic, CIBERER, Barcelona, Spain

    M. J. Coll

  4. Servicio de Traumatología y Ortopedia, Hospital Universitario Sant Joan de Déu, Barcelona, Spain

    R. Ullot

  5. Servicio de Neurocirugía, Hospital Universitario Sant Joan de Déu, Barcelona, Spain

    G. Garcia-Fructuoso

Authors
  1. M. Pineda
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  2. M. O’Callaghan
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  3. A. Fernandez Lopez
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  4. M. J. Coll
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  5. R. Ullot
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  6. G. Garcia-Fructuoso
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Corresponding author

Correspondence to M. Pineda .

Editor information

Editors and Affiliations

  1. Tulane University Medical School , New Orleans, Louisiana, USA

    Eva Morava

  2. Division of Metabolism and Children’s Research Centre, University Children's Hospital Zurich, Zurich, Switzerland

    Matthias Baumgartner

  3. Division of Child and Adolescent Neurology, Mayo Clinic, Rochester, Minnesota, USA

    Marc Patterson

  4. Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, United Kingdom

    Shamima Rahman

  5. Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

    Johannes Zschocke

  6. Center for Child and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany

    Verena Peters

Additional information

Communicated by: Olaf Bodamer, MD PhD

Appendices

Synopsis

Comprehensive description of clinical manifestations in monochorionic biamniotic twins with the severe form of mucopolysaccharidosis type VI under enzyme replacement therapy.

Contributorship

MP analyzed data and drafted the manuscript. MO, GGF, and AF treated and followed up the patients and revised the manuscript. MJC conducted metabolic and genetic studies and revised the manuscript. All authors read and approved the manuscript.

Guarantor

Mercedes Pineda Marfa.

Compliance with Ethics Guidelines

Conflict of Interest

The authors RU, AF, MJC, and LG have no affiliations or financial involvement with any organization or entity with an interest in or conflict with the subject matter discussed in the manuscript. MO has received consulting fees or honoraria from Actelion Pharmaceuticals Ltd for travel, accommodations, or meetings and payment for lectures from BioMarin, Genzyme, and Shire. MP has received consulting fees or honoraria and payment for lectures from Actelion Pharmaceuticals Ltd and BioMarin.

Informed Consent

Informed consent was obtained from the parents of the patients before retrieving the data for the study.

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© 2016 SSIEM and Springer-Verlag Berlin Heidelberg

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Pineda, M., O’Callaghan, M., Fernandez Lopez, A., Coll, M.J., Ullot, R., Garcia-Fructuoso, G. (2016). Clinical Evolution After Enzyme Replacement Therapy in Twins with the Severe Form of Maroteaux–Lamy Syndrome. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 30. JIMD Reports, vol 30. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2016_530

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  • DOI: https://doi.org/10.1007/8904_2016_530

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-53680-3

  • Online ISBN: 978-3-662-53681-0

  • eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)

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