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

Mucopolysaccharidosis Type I: Differential Diagnoses & Workup

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

Differential Diagnoses

Mucopolysaccharidosis Type II
Mucopolysaccharidosis Type III
Mucopolysaccharidosis Type IV
Mucopolysaccharidosis Type VI
Mucopolysaccharidosis Type VII

Other Problems to Be Considered

Mucolipidoses (in severe cases)

Workup

Laboratory Studies

The following studies are indicated in patients with suspected mucopolysaccharidosis type I (MPS I):

  • Lymphocytes in the blood smears may be examined for abnormal cytoplasmic inclusions.
  • Urinary levels of the mucopolysaccharides, dermatan sulfate (DS) and heparan sulfate (HS), are increased.
  • Levels of a-L-iduronidase enzyme may be assayed in cultured fibroblasts and in leukocytes.
  • Prenatal diagnosis of the enzyme level may also be made in amniotic cells and chorionic villi cells.

Imaging Studies

  • In severe cases of mucopolysaccharidosis type I (MPS I), radiography of the skeleton (especially the spine) may be useful for detecting a gibbus deformity of the lower spine.
  • Echocardiography is useful in determining the nature of cardiac complications.
  • A characteristic mild dysostosis multiplex can often be radiologically determined.

    Hurler syndrome; lateral radiograph of thoracolum...

    Hurler syndrome; lateral radiograph of thoracolumbar vertebrae illustrates vertebral plana. Courtesy of Bruce M. Rothschild, MD.

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    Hurler syndrome; lateral radiograph of thoracolum...

    Hurler syndrome; lateral radiograph of thoracolumbar vertebrae illustrates vertebral plana. Courtesy of Bruce M. Rothschild, MD.


    Hurler syndrome; widened metaphyses and diaphyses...

    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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    Hurler syndrome; widened metaphyses and diaphyses...

    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...

    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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    Hurler syndrome; widened metaphyses and diaphyses...

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

Other Tests

  • Other tests for problems in vision, hearing, and heart disease become necessary as symptoms appear in patients with mucopolysaccharidosis type I (MPS I).
  • Guidelines for hearing assessments in infants and children have been established by the American Academy of Pediatricians.4

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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