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

Mucopolysaccharidosis Type VI: Follow-up

Author: Paul R Harmatz, MD, Attending Physician, Department of Gastroenterology and Nutrition, Children's Hospital Oakland
Coauthor(s): Margaret McGovern, MD, PhD, Vice Chair, Professor, Department of Human Genetics, Mount Sinai School of Medicine
Contributor Information and Disclosures

Updated: Dec 11, 2008

Follow-up

Further Inpatient Care

  • Obstructive airway disease can result from narrowing of the trachea, enlarged tongue, and redundant tissue in patients with mucopolysaccharidosis type VI (MPS VI). Tracheostomy has been performed in some patients. Tonsillectomy and adenoidectomy are also frequently performed to relieve obstruction.
  • Many patients develop carpal tunnel syndrome, which may require nerve decompression.

Further Outpatient Care

  • Physical therapy to maximize joint mobility is beneficial.

Inpatient & Outpatient Medications

  • Patients with cardiac disease may require pharmacological therapy to manage cardiac failure. Monitor these patients closely with a pediatric cardiologist.

Transfer

  • Transfer patients with MPS VI who require general anesthesia for any procedure to a facility equipped to handle the substantial anesthetic risks.

Deterrence/Prevention

  • In most cases, a history of MPS VI is not present, and the affected child is the first affected individual in the family.
  • In future pregnancies, prenatal diagnosis is possible.

Complications

  • Vision loss due to corneal clouding is common. Corneal transplants have been reported.
  • Hearing loss is common and may require hearing aids.
  • Carpal tunnel syndrome is a common complication.
  • Obstructive airway disease can result in snoring or even hypoventilation.
  • Valvular heart disease is common and may require surgical intervention.
  • Spinal cord compression with damage and paralysis may occur.

Prognosis

  • MPS VI is a progressive disorder with significant morbidity and early mortality. As with many genetic inborn errors of metabolism, considerable variation exists among individual patients. Therefore, the prognosis for a particular patient must be determined after consideration of the presentation and complications.

Patient Education

  • Counsel patients and their families about the autosomal recessive inheritance pattern of MPS VI, the risk for occurrence in future pregnancies, and the availability of prenatal diagnosis.

Miscellaneous

Medicolegal Pitfalls

  • Failure to counsel parents of affected individuals about the risk of occurrence in future pregnancies
  • Failure to offer parents prenatal diagnosis studies
  • General anesthesia should be administered to patients with mucopolysaccharidosis type VI (MPS VI) only in facilities staffed with anesthesiologists familiar with the potential complications. The anesthesia risk is significant because of instability of the atlantoaxial joint. Specifically, induction of anesthesia can be difficult because of airway maintenance problems.

Special Concerns

  • Anesthesia risk: MPS VI presents a significant anesthesia risk because of instability of the atlantoaxial joint. In particular, induction of anesthesia can be difficult because of problems maintaining the airway. Patients with MPS VI should undergo general anesthesia only in facilities staffed with anesthesiologists who are familiar with the potential complications.
  • Experimental therapies: Bone marrow transplantation (BMT) has been attempted in numerous patients with MPS. Although BMT has been of particular interest in treating patients with MPS who are at risk for neurologic disease (as in MPS type IH), BMT has been limited by the associated mortality risk and the need for an appropriately matched donor. Refer patients and families interested in pursuing this option to a center with staff who are experienced in this procedure for patients with metabolic disease.
 


More on Mucopolysaccharidosis Type VI

Overview: Mucopolysaccharidosis Type VI
Differential Diagnoses & Workup: Mucopolysaccharidosis Type VI
Treatment & Medication: Mucopolysaccharidosis Type VI
Follow-up: Mucopolysaccharidosis Type VI
References
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References

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  2. 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].

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

  4. 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. Dec 2008;31(6):733-7. [Medline].

  5. 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. Apr 2006;148(4):533-539. [Medline].

  6. 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. Mar 2005;94(447):61-8; discussion 57. [Medline].

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  13. 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. Oct 8 1974;60(3):1170-7. [Medline].

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  15. 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. Apr 15 2005;134(2):144-50. [Medline].

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Further Reading

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Keywords

Maroteaux-Lamy syndrome, mucopolysaccharidosis type VI, arylsulfatase B deficiency, polydystrophic dwarfism, type VI mucopolysaccharidosis, MPS, MPS VI, coarse facies, corneal clouding, organomegaly, joint stiffness, dysostosis multiplex, hernias, short stature, mental retardation, otitis media, hearing loss, chronic respiratory tract infections, sleep apnea, pulmonary hypertension, hydrocephalus, rapid-onset blindness, cardiac valve insufficiency, dwarfism, hepatosplenomegaly, macrocephaly, claw-hand deformities, hirsutism

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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 Association for the Study of Liver Diseases, American Gastroenterological Association, American Society of Hematology, American Society of Human Genetics, and North American Society for Pediatric Gastroenterology and Nutrition
Disclosure: BioMarin Pharmaceutical Inc. Consulting fee Consulting; BioMarin Pharmaceutical Inc. Honoraria Speaking and teaching

Coauthor(s)

Margaret McGovern, MD, PhD, Vice Chair, Professor, Department of Human Genetics, Mount Sinai School of Medicine
Margaret McGovern, MD, PhD 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: Nothing to disclose.

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

Margaret McGovern, MD, PhD, Vice Chair, Professor, Department of Human Genetics, Mount Sinai School of Medicine
Margaret McGovern, MD, PhD is a member of the following medical societies: American Academy of Pediatrics and American Society of Human Genetics
Disclosure: Nothing to disclose.

CME Editor

Daniel Rauch, MD, FAAP, Director, Pediatric Hospitalist Program, Associate Professor, Department of Pediatrics, New York University School of Medicine
Daniel Rauch, MD, FAAP is a member of the following medical societies: Ambulatory Pediatric Association, American Academy of Pediatrics, and Society of Hospital Medicine
Disclosure: Baxter Honoraria Consulting; Pfizer Honoraria Consulting

Chief Editor

Bruce Buehler, MD, Professor, Department of Pediatrics, Pathology and Microbiology, Executive Director, Hattie B Munroe Center for Human Genetics and Rehabilitation, 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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