eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Metabolic Diseases

Mucopolysaccharidosis Type I: Treatment & Medication

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
Contributor Information and Disclosures

Updated: Apr 14, 2009

Treatment

Medical Care

Because of multisystemic involvement in patients with mucopolysaccharidosis type I (MPS I), treatment is multidisciplinary and encompasses both the curative and palliative elements.5 Regular evaluation at a major center with special interest and expertise in the management of the disease is important.

Enzyme replacement therapy with laronidase may provide clinically important benefits such as improved pulmonary function and walking ability and reduction of excess carbohydrates stored in organs.6,7,8

Surgical Care

Corrective surgery may be necessary for patients with mucopolysaccharidosis type I (MPS I) who have joint contractures or foot and hand deformities.9 Corneal transplants may be required if vision problems become severe.

Consultations

Because of the varied symptoms observed in mucopolysaccharidosis type I (MPS I), a multidisciplinary approach to care may require involvement with the following specialists:

  • Neurologist
  • Cardiologist
  • Orthopedist
  • Ophthalmologist
  • Audiologist

Given the numerous mutations at this genetic locus, identification of which allele or alleles are involved requires referral to medical geneticists for diagnosis and genetic counseling.

Medication

Enzyme, Replacement Therapy

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


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.

Adult

0.58 mg/kg IV qwk administered over 4 h; initiate at IV infusion rate of 10 mcg/kg/h and increase incrementally q15min as tolerated within first hour; not to exceed 200 mcg/kg/h

Pediatric

<5 years: Not established
>5 years: Administer as in adults

Documented hypersensitivity (consider risks and benefits or re-administering drug following severe hypersensitivity reaction; exercise extreme care with appropriate resuscitation measures if decision is made to re-administer product)

Pregnancy

B - Fetal risk not confirmed in studies in humans but has been shown in some studies in animals

Precautions

Antibodies to laronidase develop by 12 wk; infusion-related hypersensitivity reactions (eg, flushing, headache, rash, fever) may occur (decreasing infusion rate or administering antihistamines may diminish symptoms)

More on Mucopolysaccharidosis Type I

Overview: Mucopolysaccharidosis Type I
Differential Diagnoses & Workup: Mucopolysaccharidosis Type I
Treatment & Medication: Mucopolysaccharidosis Type I
Follow-up: Mucopolysaccharidosis Type I
Multimedia: Mucopolysaccharidosis Type I
References
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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. Pastores GM. Musculoskeletal complications encountered in the lysosomal storage disorders. Best Pract Res Clin Rheumatol. Oct 2008;22(5):937-47. [Medline].

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

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

  6. 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].

  7. 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].

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

  9. 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].

  10. 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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Further Reading

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Keywords

metabolic disorder, mucopolysaccharidosis type I, MPS I, MPS-1, Hurler-Scheie syndrome, type I H/S, MPS, Hurler syndrome, type IH MPS, Scheie syndrome, type IS MPS, lysosomal enzyme, enzyme deficiency, lysosomal storage disorder, facial dysmorphism, corneal clouding, hepatomegaly, valvular heart disease, obstructive airway disease, developmental delay, hearing loss, skeletal deformities, joint stiffness, prognathism, phalangeal dysostosis, synovial thickening, carpal tunnel syndrome, aortic valve disease

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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.

Medical Editor

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: MDS Pharma Salary Employment

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

,, Kathy Roarty Placeholder
Disclosure: Nothing to disclose.

CME Editor

,, Kathy Roarty Placeholder
Disclosure: Nothing to disclose.

Chief Editor

Bruce Buehler, MD, Professor of Genetics, Munroe Meyer Institute, Professor, Department of Pediatrics, Pathology and Microbiology, 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.

 
 
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