03-04-2014 23:54 Genetics of Mucopolysaccharidosis Type II Treatment & Management

Page 1 of 5 http://emedicine.medscape.com/article/944723-treatment
Genetics of Mucopolysaccharidosis Type
II Treatment & Management
Author: Nancy E Braverman, MS, MD; Chief Editor: Bruce Buehler, MD more...

Updated: Aug 6, 2013
Medical Care
Although no curative treatment for lysosomal storage disorders is available, numerous treatment options are
becoming available to improve the quality of life in these patients. The relevant enzyme (iduronate sulfatase [IDS]
in the case of mucopolysaccharidosis type II [MPS II]) can be given in the form of enzyme replacement therapy
(ERT)
[29, 30]
or by bone marrow transplantation (BMT). Factors that affect outcome include the type of MPS, the
donor genotype (in the case of BMT), and the age and degree of clinical involvement at the start of therapy or
transplantation.
In order to identify individuals that might benefit from treatment before the onset of irreversible organ damage,
newborn screening for these disorders is being developed.
[31]
Gene therapy is a promising but inadequately
developed modality of treatment. Difficulties with vector selection and efficiency of delivery persist; thus, this
therapy is still in the early stages of development.
BMT
In 16 children with Hunter syndrome who have undergone BMT, marked deterioration in mental
retardation continued in 15.
[32]
All 15 children had intelligence quotients that fell below 50. Some of
these children did have improvement in their somatic symptoms, with a decrease in the coarsening
of their face and hair and an increase in the range of motion in their joints. The hearing deficits may
not improve after BMT.
In addition to the study of BMT, the use of umbilical cord blood transplantation from an unrelated
donor has been attempted at least once.
[33]
ERT: See Medication.

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Contributor Information and Disclosures
Author
Nancy E Braverman, MS, MD Associate Professor, Department of Human Genetics, McGill University
Nancy E Braverman, MS, MD is a member of the following medical societies: Alpha Omega Alpha, American
Society of Human Genetics, Society for Inherited Metabolic Disorders, and Society for the Study of Inborn
Errors of Metabolism
Disclosure: Nothing to disclose.
Coauthor(s)
Cydney L Fenton, MD Director, Center for Diabetes and Endocrinology, Akron Children's Hospital
Cydney L Fenton, MD is a member of the following medical societies: American Academy of Pediatrics,
American Diabetes Association, Pediatric Endocrine Society, and The Endocrine Society
03-04-2014 23:54 Genetics of Mucopolysaccharidosis Type II Treatment & Management
Page 2 of 5 http://emedicine.medscape.com/article/944723-treatment
Disclosure: Nothing to disclose.
Mary Kay Conover-Walker, MSN, PNP Pediatric Nurse Practioner, Institute of Genetic Medicine, Johns
Hopkins Hospital
Mary Kay Conover-Walker, MSN, PNP is a member of the following medical societies: American Academy of
Allergy Asthma and Immunology and Association of Clinical Research Professionals
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 Medscape Reference gratefully acknowledge the contributions of previous authors
William Rogers, MD, and Vinayak Kottoor, MD, to the original writing and development of this article.
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