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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.

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


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.


See the list below:

  • No special dietary requirements are noted.


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.
Contributor Information and Disclosures

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.


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.

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