Genetics of Mucopolysaccharidosis Type III Treatment & Management

  • Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Bruce Buehler, MD   more...
 
Updated: Mar 22, 2012
 

Medical Care

No treatment for the underlying cause is available. Medical treatment is supportive and is directed toward improving the patient's quality of life. Because of the varied symptoms seen in mucopolysaccharidosis type III (MPS III), a multidisciplinary approach is indicated (see Consultations). Currently, specific therapies such as bone marrow transplantation (BMT) and enzyme replacement therapy (ERT) are not options for patients with Sanfilippo syndrome.

  • BMT has been shown to improve the clinical outcomes of patients with mucopolysaccharidosis disorders; however this therapy has been most successful in patients with mucopolysaccharidosis I, mucopolysaccharidosis II and mucopolysaccharidosis VI. To date, patients with mucopolysaccharidosis III have not shown positive clinical benefit from BMT.
  • ERT has been approved in the United States for patients with mucopolysaccharidosis I, mucopolysaccharidosis II, and mucopolysaccharidosis VI. Recombinant enzymes for the deficiencies seen in mucopolysaccharidosis IIIA and mucopolysaccharidosis IIIB are available; however medical trials in ERT have not been favorable in improving prognosis because the enzymes are not able to cross the blood brain barrier to enter the CNS. Presently, enzyme injections directly into the CNS are being investigated.
  • Gene therapy to treat mucopolysaccharidosis IIIB is being researched in the United States and France using animal models.
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Consultations

  • The treatment of individual patients requires consultation and ongoing care with pediatric neurologists, ophthalmologists, audiologists, cardiologists, gastroenterologists, and orthopedists.
  • Pediatric surgical consultation is indicated for those patients in need of hernia repair.
  • Neurosurgical evaluation is indicated for those patients who show clinical signs of cervical cord compression or other nerve compression disorders (ie, claw hand deformity).
  • Refer patients and their families to a developmental pediatrician to help with behavioral concerns and to establish routines for nighttime sleep.
  • Patients and their families need evaluation by a medical genetics team for diagnosis, counseling, and referrals to support groups and organizations (see Patient Education).
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Contributor Information and Disclosures
Author

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.

Coauthor(s)

Surendra Varma, MD  Associate Dean, Graduate Medical Education and Resident Affairs, Ted Hartman Endowed Chair in Medical Education, University Distinguished Professor and Vice-Chairman of Pediatrics, Professor of Physiology and Health Organization Management, Director, Pediatric Residency Program, Texas Tech University Health Sciences Center School of Medicine

Surendra Varma, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American Diabetes Association, American Medical Association, American Thyroid Association, Endocrine Society, Medical Group Management Association, New York Academy of Sciences, Sigma Xi, Society for Pediatric Radiology, Southern Society for Pediatric Research, and Texas Medical Association

Disclosure: Nothing to disclose.

Specialty Editor Board

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.

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, New York

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

Disclosure: Genzyme Grant/research funds PI

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

Chief Editor

Bruce Buehler, MD  Professor, Department of Pediatrics and Genetics, Director RSA, 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.

Additional Contributors

The authors and editors of eMedicine gratefully acknowledge the contributions of previous author Donald Nash to the original writing and development of this article.

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