Non-neoplastic or metabolic disease

Topic Completed: 1 August 2013

Revised: 27 December 2018

Copyright: (c) 2003-2018,, Inc.

PubMed Search: Mucopolysaccharidoses[title]

Nat Pernick, M.D.
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Cite this page: Pernick N Mucopolysaccharidoses. website. Accessed May 27th, 2020.
Definition / general
  • Lysosomal storage diseases caused by deficiencies in enzymes degrading heparan sulfate, dermatan sulfate and keratan sulfate
  • Disorders affect hyaline cartilage since enzymes are produced by chondrocytes
  • Usually cause short stature, chest wall abnormalities, short bones
Case reports
  • 19 year old man with lethal mucopolysaccharidosis VII due to beta-glucuronidase deficiency (Mod Pathol 1994;7:132)
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