Close
New

Medscape is available in 5 Language Editions – Choose your Edition here.

 

Genetics of Mucopolysaccharidosis Type VI Treatment & Management

  • Author: Paul R Harmatz, MD; Chief Editor: Maria Descartes, MD  more...
 
Updated: Dec 17, 2014
 

Medical Care

Patients with mucopolysaccharidosis type VI (MPS VI) require ongoing medical care from numerous subspecialists. In addition, patients should receive routine pediatric care, including immunizations. The US Food and Drug Administration (FDA)–approved enzyme replacement therapy with galsulfase (Naglazyme) has been shown to improve walking and stair-climbing capacity and to decrease urine glycosaminoglycan (GAG) levels in patients with MPS VI.[10, 11]

  • Perform ongoing evaluations for the development of valvular cardiac disease. Such evaluations include annual echocardiograms.
  • Antibiotics (to prevent subacute bacterial endocarditis from medical and dental procedures) should be discussed with a cardiologist.
  • Many patients show evidence of restrictive airway disease, obstructive airway disease, or both. Conduct ongoing assessments for the development of clinically significant hypoventilation. Patients may benefit from oxygen or positive pressure therapy (continuous positive airway pressure [CPAP] or bilevel positive airway pressure [BIPAP]), especially when asleep if they have sleep apnea.
  • Patients typically have contractures and hand deformities. A program of physical therapy may be beneficial in maintaining optimal function. Carpal tunnel syndrome may be present and asymptomatic and should be evaluated with nerve conduction on a regular basis.
  • Patients who develop headache, vision change, or vomiting should be evaluated for increased intracranial pressure and hydrocephalus. Measuring intrathecal spinal fluid pressure to confirm increased intracranial pressure may be necessary.
Next

Surgical Care

See the list below:

  • Patients who develop clinically significant valvular heart disease may require valve replacement.
  • Patients with obstructive airway disease sometimes benefit from tonsillectomy and adenoidectomy. Severe airway obstruction and hypoventilation may eventually require tracheostomy.
  • Corneal transplants have been successful in restoring vision to patients with corneal clouding, although storage in the transplanted cornea may recur over time.
  • Surgical decompression of the carpal tunnel to preserve median nerve function may be necessary.
  • Neurosurgery may be required to place ventriculoperitoneal decompression shunts for hydrocephalus or increased intracranial pressure.
  • Orthopedic surgery may be necessary to decompress the spinal cord or to stabilize the atlantoaxial junction.
  • Patients often develop hip dysplasia and require hip replacement surgery
Previous
Next

Consultations

See the list below:

  • Geneticist: Refer all patients suspected of having an MPS to a medical geneticist. The geneticist is needed to provide definitive diagnosis and appropriate counseling of the family about recurrence risks.
  • Cardiologist: Refer affected patients to a cardiologist because of the risk for valvular heart disease.
  • Audiologist: Refer affected patients to an audiologist for periodic hearing evaluations because both conductive and sensorineural hearing loss can occur.
  • Ophthalmologist: Obtain slitlamp and funduscopic examinations during the initial evaluation and then periodically thereafter. Corneal clouding can lead to significant visual impairment.
  • Neurosurgeon or orthopedist: Spinal cord compression secondary to boney narrowing of the canal and thickening of the dura in the cervical canal has been described. Spinal cord compression results in myelopathy, which may require surgical intervention.
  • Pulmonologist: A pulmonologist should evaluate the patient regularly to identify airway obstruction, hypoventilation, or sleep apnea.
  • Rehabilitation medicine: This specialist can prescribe appropriate occupational and physical therapy, identify medical devices such as the wheel chair that will improve quality of life, and often provide nerve conduction studies to follow median nerve function and diagnose carpal tunnel and need for surgery.
Previous
Next

Diet

See the list below:

  • No special dietary requirements are noted.
Previous
Next

Activity

See the list below:

  • Patients with MPS VI usually have some limitations on their level of activity because of contractures and joint stiffness.
  • Patients with cardiac manifestations or pulmonary insufficiency may be limited in their activity level.
Previous
 
 
Contributor Information and Disclosures
Author

Paul R Harmatz, MD Attending Physician, Department of Gastroenterology and Nutrition, Children’s Hospital Oakland

Paul R Harmatz, MD is a member of the following medical societies: American Gastroenterological Association

Disclosure: Received consulting fee from BioMarin Pharmaceutical Inc. for consulting; Received honoraria from BioMarin Pharmaceutical Inc. for speaking and teaching; Received advisory board from BioMarin Pharmceutical Inc. for board membership; Received consulting fee from Shire Human Genetic Therapies for board membership; Received honoraria from Shire Human Genetic Therapies for speaking and teaching; Received honoraria from Genzyme for speaking and teaching; Received grant/research funds from BioMarin Ph.

Coauthor(s)

Margaret M McGovern, MD, PhD Professor and Chair of Pediatrics, Stony Brook University School of Medicine

Margaret M McGovern, MD, PhD 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.

Margaret M McGovern, MD, PhD Professor and Chair of Pediatrics, Stony Brook University School of Medicine

Margaret M McGovern, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Society of Human Genetics

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. Kantaputra PN, Kayserili H, Güven Y, Kantaputra W, Balci MC, Tanpaiboon P, et al. Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI. J Inherit Metab Dis. 2014 Mar. 37(2):263-8. [Medline].

  2. Borlot F, Arantes PR, Quaio CR, Franco JF, Lourenço CM, Bertola DR, et al. New insights in mucopolysaccharidosis type VI: neurological perspective. Brain Dev. 2014 Aug. 36(7):585-92. [Medline].

  3. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA. 1999 Jan 20. 281(3):249-54. [Medline].

  4. Baehner F, Schmiedeskamp C, Krummenauer F, et al. Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis. 2005. 28(6):1011-7. [Medline].

  5. Pinto R, Caseiro C, Lemos M, et al. Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet. 2004 Feb. 12(2):87-92. [Medline].

  6. Hwu WL, Okuyama T, But WM, Estrada S, Gu X, Hui J, et al. Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region. Mol Genet Metab. 2012 Sep. 107(1-2):136-44. [Medline].

  7. Costa-Motta FM, Bender F, Acosta A, Abé-Sandes K, Machado T, Bomfim T, et al. A community-based study of mucopolysaccharidosis type VI in Brazil: the influence of founder effect, endogamy and consanguinity. Hum Hered. 2014. 77(1-4):189-96. [Medline].

  8. Bartolomeo R, Polishchuk EV, Volpi N, Polishchuk RS, Auricchio A. Pharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI. J Inherit Metab Dis. 2012 Sep 13. [Medline].

  9. Kantaputra PN, Kayserili H, Guven Y, Kantaputra W, Balci MC, Tanpaiboon P, et al. Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations. Am J Med Genet A. 2014 Jun. 164A(6):1443-53. [Medline].

  10. Sohn YB, Park SW, Kim SH, Cho SY, Ji ST, Kwon EK, et al. Enzyme replacement therapy improves joint motion and outcome of the 12-min walk test in a mucopolysaccharidosis type VI patient previously treated with bone marrow transplantation. Am J Med Genet A. 2012 May. 158A(5):1158-63. [Medline].

  11. Brands MM, Frohn-Mulder IM, Hagemans ML, Hop WC, Oussoren E, Helbing WA, et al. Mucopolysaccharidosis: Cardiologic features and effects of enzyme-replacement therapy in 24 children with MPS I, II and VI. J Inherit Metab Dis. 2012 Jan 26. [Medline].

  12. Giugliani R, Lampe C, Guffon N, Ketteridge D, Leão-Teles E, Wraith JE, et al. Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)--10-year follow-up of patients who previously participated in an MPS VI Survey Study. Am J Med Genet A. 2014 Aug. 164A(8):1953-64. [Medline]. [Full Text].

  13. Bagewadi S, Roberts J, Mercer J, Jones S, Stephenson J, Wraith JE. Home treatment with Elaprase and Naglazyme is safe in patients with mucopolysaccharidoses types II and VI, respectively. J Inherit Metab Dis. 2008 Dec. 31(6):733-7. [Medline].

  14. Harmatz P, Giugliani R, Schwartz I. Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-. J Pediatr. 2006 Apr. 148(4):533-539. [Medline].

  15. Harmatz P, Kramer WG, Hopwood JJ, et al. Pharmacokinetic profile of recombinant human N-acetylgalactosamine 4-sulphatase enzyme replacement therapy in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): a phase I/II study. Acta Paediatr Suppl. 2005 Mar. 94(447):61-8; discussion 57. [Medline].

  16. Isbrandt D, Arlt G, Brooks DA, Hopwood JJ, et al. Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): six unique arylsulfatase B gene alleles causing variable disease phenotypes. Am J Hum Genet. 1994 Mar. 54(3):454-63. [Medline].

  17. Jones KL. Smith's Recognizable Patterns of Human Malformation. 1997. 468-9.

  18. Karageorgos L, Harmatz P, Simon J. Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy. Hum Mutat. 2004 Mar. 23(3):229-33. [Medline].

  19. Krivit W. Stem cell bone marrow transplantation in patients with metabolic storage diseases. Adv Pediatr. 2002. 49:359-78. [Medline].

  20. Nelson J, Crowhurst J, Carey B, Greed L. Incidence of the mucopolysaccharidoses in Western Australia. Am J Med Genet A. 2003 Dec 15. 123(3):310-3. [Medline].

  21. Neufeld EF, Muenzer J. The mucopolysaccharidoses. The Metabolic and Molecular Bases of Inherited Disease. 1995. 2465-94.

  22. O'Brien JF, Cantz M, Spranger J. Maroteaux-Lamy disease (mucopolysaccharidosis VI), subtype A: deficiency of a N-acetylgalactosamine-4-sulfatase. Biochem Biophys Res Commun. 1974 Oct 8. 60(3):1170-7. [Medline].

  23. Poorthuis BJ, Wevers RA, Kleijer WJ, et al. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet. 1999 Jul-Aug. 105(1-2):151-6. [Medline].

  24. Swiedler SJ, Beck M, Bajbouj M. Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Am J Med Genet A. 2005 Apr 15. 134(2):144-50. [Medline].

Previous
Next
 
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.