Journal of Inherited Metabolic Disease

, Volume 29, Issue 6, pp 762–762 | Cite as

Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome

  • J. A. Thomas
  • S. Jacobs
  • J. Kierstein
  • J. Van Hove
Short Report

Summary

Enzyme replacement therapy (ERT) with laronidase, recombinant α-l-iduronidase, for mucopolysaccharidosis type I (MPS I) has been clinically available since April 2003. Pre-approval studies were performed on patients with the more attenuated forms of MPS I, Hurler–Scheie and Scheie syndromes. The clinical efficacy of laronidase on the severe form of MPS I, Hurler syndrome, is not well known. We present a patient with Hurler syndrome who has been treated with laronidase for 3 years. Clinically, the patient demonstrated improvement in urinary glycosaminoglycan (GAG) levels and hepatomegaly, but continued to experience decline in respiratory status, musculoskeletal and spinal involvement, and developmental skills. Overall, the benefit of ERT with laronidase in advanced Hurler syndrome appeared to be minimal in this patient.

Supplementary material

10545_2006_ESM_457.pdf (217 kb)
Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome

Copyright information

© SSIEM and Springer 2006

Authors and Affiliations

  • J. A. Thomas
    • 1
  • S. Jacobs
    • 1
  • J. Kierstein
    • 1
  • J. Van Hove
    • 1
  1. 1.Department of Pediatrics, Section of Clinical Genetics and MetabolismUniversity of Colorado and The Children’s HospitalDenverUSA

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