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Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome.
J Inherit Metab Dis. 2006 Dec; 29(6):762.JI

Abstract

Enzyme replacement therapy (ERT) with laronidase, recombinant alpha-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.

Authors+Show Affiliations

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado and The Children's Hospital, Denver, Colorado, USA. thomas.janet@tchden.orgNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

17089217

Citation

Thomas, J A., et al. "Outcome After Three Years of Laronidase Enzyme Replacement Therapy in a Patient With Hurler Syndrome." Journal of Inherited Metabolic Disease, vol. 29, no. 6, 2006, p. 762.
Thomas JA, Jacobs S, Kierstein J, et al. Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome. J Inherit Metab Dis. 2006;29(6):762.
Thomas, J. A., Jacobs, S., Kierstein, J., & Van Hove, J. (2006). Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome. Journal of Inherited Metabolic Disease, 29(6), 762.
Thomas JA, et al. Outcome After Three Years of Laronidase Enzyme Replacement Therapy in a Patient With Hurler Syndrome. J Inherit Metab Dis. 2006;29(6):762. PubMed PMID: 17089217.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome. AU - Thomas,J A, AU - Jacobs,S, AU - Kierstein,J, AU - Van Hove,J, Y1 - 2006/11/06/ PY - 2006/08/22/received PY - 2006/09/26/accepted PY - 2006/09/15/revised PY - 2006/11/8/pubmed PY - 2007/1/9/medline PY - 2006/11/8/entrez SP - 762 EP - 762 JF - Journal of inherited metabolic disease JO - J. Inherit. Metab. Dis. VL - 29 IS - 6 N2 - Enzyme replacement therapy (ERT) with laronidase, recombinant alpha-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. SN - 1573-2665 UR - https://www.unboundmedicine.com/medline/citation/17089217/Outcome_after_three_years_of_laronidase_enzyme_replacement_therapy_in_a_patient_with_Hurler_syndrome_ L2 - https://doi.org/10.1007/s10545-006-0457-y DB - PRIME DP - Unbound Medicine ER -