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

Mucopolysaccharidosis Type VII: Treatment & Medication

Author: Maryam Banikazemi, MD, Assistant Professor of Clinical Pediatrics, Department of Clinical and Molecular Genetics, Columbia University College of Physicians and Surgeons; Director of Newborn Screening Program, Director of Lysosomal Storage Disorders Program, Department of Pediatrics, Columbia University Medical Center
Coauthor(s): Surendra Varma, MD, Vice-Chairman and Program Director, University Distinguished Professor, Department of Pediatrics, Texas Tech University School of Medicine
Contributor Information and Disclosures

Updated: Dec 5, 2008

Treatment

Medical Care

Supportive care

Prognosis is poor for antenatal forms of mucopolysaccharidosis type VII (MPS VII), most often leading to death in utero. Neonatal and childhood forms have a very limited life expectancy, whereas milder forms have a prolonged survival.

As in some other MPS types, symptomatic treatment is essential for survival of patients with milder cases and late-onset forms. Although the available medical and surgical interventions do not address the underlying cause of the disease or reverse/arrest the progression of the disease, these approaches may greatly improve the quality of life for patients and their families.

The symptomatic intervention for MPS VII includes, but is not limited to, management of respiratory and cardiovascular complications, skeletal manifestations, arthropathy, loss of hearing and vision, GI symptoms, and communicating hydrocephalus.

Disease-specific treatment

 Treatment that directly targets the underlying cause of the disease and prevents accumulation of substrate is in development for several inherited metabolic storage disorders. However, no disease-specific therapy is currently available for MPS VII. The promising studies are underway in various animal models of Sly syndrome (eg, mutant mice,3 cats, dogs). These approaches include the following:
  • Bone marrow or cord blood transplantation, which endogenously restores production of missing functional enzyme4
  • Enzyme replacement therapy, which supplements exogenously deficient enzyme produced by recombinant DNA technology
  • Gene transfer and modified fibroblast implants that supply patient with a functional gene for the deficient enzyme

Surgical Care

  • Corrective surgery may be necessary in patients with joint contractures and foot and hand deformities.
  • Corneal transplants may be required if problems in vision become severe.

Consultations

  • Patients may require referral to neurologists, orthopedic specialists, pediatricians, ophthalmologists, and audiologists.
  • Refer patients to medical geneticists for diagnosis and genetic counseling.

Medication

Medication is not currently a component of care in mucopolysaccharidosis type VII (MPSVII). See Treatment.

More on Mucopolysaccharidosis Type VII

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

  1. Nelson J. Incidence of the mucopolysaccharidoses in Northern Ireland. Hum Genet. Dec 1997;101(3):355-8. [Medline].

  2. Wallace SP, Prutting CA, Gerber SE. Degeneration of speech, language, and hearing in a patient with mucopolysaccharidosis VII. Int J Pediatr Otorhinolaryngol. Jun 1990;19(2):97-107. [Medline].

  3. Sly WS, Vogler C. Gene therapy for lysosomal storage disease: a no-brainer? Transplants of fibroblasts secreting high levels of beta-glucuronidase decrease lesions in the brains of mice with Sly syndrome, a lysosomal storage disease. Nat Med. Jul 1997;3(7):719-20. [Medline].

  4. Vellodi A, Young EP, Cooper A, et al. Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres. Arch Dis Child. Feb 1997;76(2):92-9. [Medline].

  5. Emory AE, Rimoin DL, Connor JM, Pyeritz RE, eds. Emery and Rimoin's Principles and Practice of Medical Genetics. 3rd ed. Pearson Professional; 1996:2077-8.

  6. McKusick VA. Gene 253220. In: Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders. Vol 3. Johns Hopkins University Press; 1998.

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

  8. Neufeld E, Muenzer J. The Mucopolysaccharidoses. In: Scriver C, Beaudet A, Sly W, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw Hill; 2001:3421-52.

  9. Peters C, Shapiro EG, Anderson J, et al. Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. The Storage Disease Collaborative Study Group. Blood. Apr 1 1998;91(7):2601-8. [Medline].

  10. Wasant P, Wattanaweeradej S, Raksadawan N, Kolodny EH. Lysosomal storage disorders in Thailand: the Siriraj experience. Southeast Asian J Trop Med Public Health. 1995;26 Suppl 1:54-8. [Medline].

  11. Whitley CB, Belani KG, Chang PN, Summers CG, Blazar BR, Tsai MY. Long-term outcome of Hurler syndrome following bone marrow transplantation. Am J Med Genet. Apr 15 1993;46(2):209-18. [Medline].

  12. Nampoothiri S, Kappanayil M, Hiran KR, Sunitha V. Sly Disease Mucopolysaccharidosis Type VII. Indian Pediatr. Oct 2008;45(10):859-61. [Medline].

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Further Reading

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Keywords

mucopolysaccharidosis type VII, MPS VII, Sly syndrome, beta-glucuronidase deficiency, Hunter syndrome, hydrops fetalis, upper respiratory tract infections, macrocephaly, hepatomegaly, hepatosplenomegaly, inguinal hernia, umbilical hernia, growth retardation, neonatal cholestasis, ascites, short stature, dwarfism, hearing loss, hirsutism, chronic inflammatory lung disease

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Contributor Information and Disclosures

Author

Maryam Banikazemi, MD, Assistant Professor of Clinical Pediatrics, Department of Clinical and Molecular Genetics, Columbia University College of Physicians and Surgeons; Director of Newborn Screening Program, Director of Lysosomal Storage Disorders Program, Department of Pediatrics, Columbia University Medical Center
Maryam Banikazemi, MD is a member of the following medical societies: American Academy of Pediatrics and American Society of Human Genetics
Disclosure: Nothing to disclose.

Coauthor(s)

Surendra Varma, MD, Vice-Chairman and Program Director, University Distinguished Professor, Department of Pediatrics, Texas Tech University 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.

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 broker recommendation; Avanir Pharma Stock Investment from broker recommendation

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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