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Genetics of Mucopolysaccharidosis Type I Workup

  • Author: Maryam Banikazemi, MD; Chief Editor: Maria Descartes, MD  more...
 
Updated: Oct 13, 2014
 

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.[6]
  • Prenatal diagnosis of the enzyme level may also be made in amniotic cells and chorionic villi cells.
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Imaging Studies

See the list below:

  • 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. See the image below.
    Hurler syndrome; lateral radiograph of thoracolumbHurler 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.
    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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Other Tests

See the list below:

  • 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.[7]
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Contributor Information and Disclosures
Author

Maryam Banikazemi, MD Assistant Professor of Clinical Pediatrics, New York Medical College

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

Disclosure: Nothing to disclose.

Specialty Editor Board

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

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Additional Contributors

Karl S Roth, MD Retired 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 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, Southern Society for Pediatric Research

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. 2009 Mar 27. [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. 2008 Sep 16. 3:24. [Medline]. [Full Text].

  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. 2012 Jan 11. [Medline].

  4. Arn P, Bruce IA, Wraith JE, Travers H, Fallet S. Airway-Related Symptoms and Surgeries in Patients With Mucopolysaccharidosis I. Ann Otol Rhinol Laryngol. 2014 Sep 11. [Medline].

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

  6. 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].

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

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

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

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

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

  12. 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. 2011 Aug 10. 6:55. [Medline]. [Full Text].

  13. Dornelles AD, de Camargo Pinto LL, de Paula AC, Steiner CE, Lourenço CM, Kim CA, et al. Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network. Genet Mol Biol. 2014 Mar. 37(1):23-9. [Medline]. [Full Text].

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

  15. 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. 1990 Jul 15. 46(1):5-7. [Medline].

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

  17. Pasqualim G, Gonçalves Ribeiro M, Guida Godinho da Fonseca G, Szlago M, Schenone A, Lemes A, et al. p.L18P: A novel IDUA mutation that causes a distinct attenuated phenotype in Mucopolysaccharidosis type I patients. Clin Genet. 2014 Sep 25. [Medline].

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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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