Bone chapter (nontumor and tumor)
Non-neoplastic or metabolic disease
Reviewer: Nat Pernick, M.D. (see Reviewers page)
Revised: 1 August 2013, last major update June 2005
Copyright: (c) 2003-2013, PathologyOutlines.com, Inc.
- 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
- 19 year old man with lethal mucopolysaccharidosis VII due to beta-glucuronidase deficiency (Mod Pathol 1994;7:132)
End of Bone chapter (nontumor and tumor) > Non-neoplastic or metabolic disease > Mucopolysaccharidoses
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