Hurler Syndrome, Hurler-Scheie Syndrome, and Scheie Syndrome (Mucopolysaccharidosis Type I) Differential Diagnoses

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. [QxMD MEDLINE Link].

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. [QxMD MEDLINE Link]. [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. [QxMD MEDLINE Link].

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. [QxMD MEDLINE Link].

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

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. [QxMD MEDLINE Link].

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

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

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. [QxMD MEDLINE Link].

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. [QxMD MEDLINE Link].

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

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. [QxMD MEDLINE Link]. [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. [QxMD MEDLINE Link]. [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. [QxMD MEDLINE Link].

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. [QxMD MEDLINE Link].

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. [QxMD MEDLINE Link].

Germaine L Defendi, MD, MS, FAAP Associate Clinical Professor, Department of Pediatrics, Olive View-UCLA Medical Center

Germaine L Defendi, MD, MS, FAAP is a member of the following medical societies: American Academy of Pediatrics

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.

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.

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, The Scientific Research Honor Society, Society for Pediatric Research, Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

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.

• Print this section
• Print the entire contents of
• Print the entire contents of article