Genetics of Mucopolysaccharidosis Type I Workup
- Author: Maryam Banikazemi, MD; Chief Editor: Maria Descartes, MD more...
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.
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 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.
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.
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].
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].
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].
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].
Pastores GM. Musculoskeletal complications encountered in the lysosomal storage disorders. Best Pract Res Clin Rheumatol. 2008 Oct. 22(5):937-47. [Medline].
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].
Cunningham M, Cox EO. Hearing assessment in infants and children: recommendations beyond neonatal screening. Pediatrics. 2003 Feb. 111(2):436-40. [Medline].
Muenzer J, Wraith JE, Clarke LA. Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics. 2009 Jan. 123(1):19-29. [Medline].
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].
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].
Pastores GM. Laronidase (Aldurazyme): enzyme replacement therapy for mucopolysaccharidosis type I. Expert Opin Biol Ther. 2008 Jul. 8(7):1003-9. [Medline].
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].
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].
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].
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].
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.
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].