Genetics of Mucopolysaccharidosis Type I Medication

  • Author: Maryam Banikazemi, MD; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Jan 26, 2012
 

Enzyme, Replacement Therapy

Class Summary

Replacing the deficient enzyme may improve symptoms and delay disease-induced complications.

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Laronidase (Aldurazyme)

 

Indicated to treat MPS I (Hurler syndrome and Hurler-Scheie syndrome). Used to increase catabolism of GAG, which accumulates with MPS I. Treatment has been shown to improve walking capacity and pulmonary function. Laronidase is a polymorphic variant of the human enzyme a-L-iduronidase produced by recombinant DNA technology.

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Contributor Information and Disclosures
Author

Maryam Banikazemi, MD  Assistant Professor of Clinical Pediatrics, Department of Clinical and Molecular Genetics, Columbia University College of Physicians and Surgeons; Director of Newborn Screening Program, Director of Lysosomal Storage Disorders Program, Department of Pediatrics, Columbia University Medical Center

Maryam Banikazemi, MD is a member of the following medical societies: American Academy of Pediatrics and American Society of Human Genetics

Disclosure: Nothing to disclose.

Specialty Editor Board

Karl S Roth, MD  Professor and Chair, Department of Pediatrics, Creighton University School of Medicine

Karl S Roth, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Nutrition, American Pediatric Society, American Society for Clinical Nutrition, American Society of Nephrology, Association of American Medical Colleges, Medical Society of Virginia, New York Academy of Sciences, Sigma Xi, Society for Pediatric Research, and Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, University of Nebraska Medical Center

Bruce Buehler, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Pediatrics, American Association on Mental Retardation, American College of Medical Genetics, American College of Physician Executives, American Medical Association, and Nebraska Medical Association

Disclosure: Nothing to disclose.

References

  1. Yano S, Moseley K, Pavlova Z. Postmortem studies on a patient with mucopolysaccharidosis type I: Histopathological findings after one year of enzyme replacement therapy. J Inherit Metab Dis. Mar 27 2009;[Medline].

  2. Moore D, Connock MJ, Wraith E, Lavery C. The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK. Orphanet J Rare Dis. Sep 16 2008;3:24. [Medline].

  3. D'Aco K, Underhill L, Rangachari L, Arn P, Cox GF, Giugliani R, et al. Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry. Eur J Pediatr. Jan 11 2012;[Medline].

  4. Pastores GM. Musculoskeletal complications encountered in the lysosomal storage disorders. Best Pract Res Clin Rheumatol. Oct 2008;22(5):937-47. [Medline].

  5. Müller KB, Pereira VG, Martins AM, D'Almeida V. Evaluation of a-iduronidase in dried blood spots is an accurate tool for mucopolysaccharidosis I diagnosis. J Clin Lab Anal. 2011;25(4):251-4. [Medline].

  6. Cunningham M, Cox EO. Hearing assessment in infants and children: recommendations beyond neonatal screening. Pediatrics. Feb 2003;111(2):436-40. [Medline].

  7. Muenzer J, Wraith JE, Clarke LA. Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics. Jan 2009;123(1):19-29. [Medline].

  8. Clarke LA, Wraith JE, Beck M, et al. Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics. Jan 2009;123(1):229-40. [Medline].

  9. Giugliani R, Rojas VM, Martins AM, et al. A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I. Mol Genet Metab. Jan 2009;96(1):13-9. [Medline].

  10. Pastores GM. Laronidase (Aldurazyme): enzyme replacement therapy for mucopolysaccharidosis type I. Expert Opin Biol Ther. Jul 2008;8(7):1003-9. [Medline].

  11. de Ru MH, Boelens JJ, Das AM, Jones SA, van der Lee JH, Mahlaoui N, et al. Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure. Orphanet J Rare Dis. Aug 10 2011;6:55. [Medline]. [Full Text].

  12. Arn P, Wraith JE, Underhill L. Characterization of Surgical Procedures in Patients with Mucopolysaccharidosis Type I: Findings from the MPS I Registry. J Pediatr. Feb 11 2009;[Medline].

  13. Herrero R, Brinton LA, Reeves WC, Brenes MM, de Britton RC, Tenorio F, et al. Injectable contraceptives and risk of invasive cervical cancer: evidence of an association. Int J Cancer. Jul 15 1990;46(1):5-7. [Medline].

  14. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly W, Valle D, eds. The Metabolic & Molecular Bases of Inherited Disease. Vol 3. 8th ed. New York, NY: McGraw Hill; 2001:3421-52.

 
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Hurler syndrome; lateral radiograph of thoracolumbar vertebrae illustrates vertebral plana. Courtesy of Bruce M. Rothschild, MD.
Hurler syndrome; widened metaphyses and diaphyses with truncated distal portions forming a peg characterize this radiograph. Courtesy of Bruce M. Rothschild, MD.
Hurler syndrome; widened metaphyses and diaphyses with truncated distal portions forming a peg characterize this radiograph. Courtesy of Bruce M. Rothschild, MD.
 
 
 
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