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

  • M. PinedaEmail author
  • M. O’Callaghan
  • A. Fernandez Lopez
  • M. J. Coll
  • R. Ullot
  • G. Garcia-Fructuoso
Research Report
Part of the JIMD Reports book series (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.

Keywords

Carpal Tunnel Syndrome Enzyme Replacement Therapy Dermatan Sulfate Deep Anterior Lamellar Keratoplasty Spinal Cord Damage 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

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.

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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  • M. Pineda
    • 1
    Email author
  • M. O’Callaghan
    • 1
  • A. Fernandez Lopez
    • 2
  • M. J. Coll
    • 3
  • R. Ullot
    • 4
  • G. Garcia-Fructuoso
    • 5
  1. 1.Fundación y Servicio de NeuropediatríaHospital Universitario Sant Joan de Déu, CIBERERBarcelonaSpain
  2. 2.Servicio de pediatríaHospital Sant Joan de Déu, Universidad de BarcelonaBarcelonaSpain
  3. 3.Sección Errors CongènitsServei de Bioquímica i Genètica Molecular, Hospital Clinic, CIBERERBarcelonaSpain
  4. 4.Servicio de Traumatología y OrtopediaHospital Universitario Sant Joan de DéuBarcelonaSpain
  5. 5.Servicio de NeurocirugíaHospital Universitario Sant Joan de DéuBarcelonaSpain

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