Non-neoplastic or metabolic disease

Author: Nat Pernick, M.D. (see Authors page)

Revised: 3 October 2016, last major update August 2013

Copyright: (c) 2003-2016,, Inc.

PubMed Search: Mucopolysaccharidoses[title]
Page views in 2017: 93
Page views in 2018 to date: 80
Cite this page: Mucopolysaccharidoses. website. Accessed December 18th, 2018.
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)