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Genetics of Mucopolysaccharidosis Type VI Clinical Presentation

  • Author: Paul R Harmatz, MD; Chief Editor: Maria Descartes, MD  more...
 
Updated: Dec 17, 2014
 

History

See the list below:

  • Individuals with mucopolysaccharidosis type VI (MPS VI) usually have a period of normal growth and development but later present when frequent respiratory infections or otitis media, inguinal or umbilical hernias, hepatosplenomegaly, coarse facial features, dysostosis multiplex, joint or spine abnormalities, and corneal clouding become evident.
  • Because MPS VI is a recessive disorder, no family history is usually present.
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Physical

See the list below:

  • Facial features include the following:
    • Coarse facial features (Compare the facial features with those of other family members to best appreciate the coarsening.)
    • Macrocephaly
    • Enlarged tongue
    • Prominent forehead
    • Possible coarse texture of hair
  • Hepatomegaly and splenomegaly are often present in patients with MPS VI.
  • Umbilical and inguinal hernias are common.
  • Growth may be normal for several years and may then stop, resulting in a final stature of 90-140 cm. A short trunk with lumbar lordosis is typically present.
  • Corneal opacities can be detected with slitlamp examination.
  • Restricted joint movement, including claw-hand deformities, appears in the first few years of life.
  • Examination of the skin frequently reveals hirsutism.
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Causes

MPS VI results from the deficiency of N- acetylgalactosamine 4-sulfatase (arylsulfatase B) and the lysosomal accumulation of dermatan sulfate.

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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 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.

Coauthor(s)

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.

References
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