Cite this page: Pernick N Mucopolysaccharidoses. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/bonemucopolysaccharidoses.html. 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
- 19 year old man with lethal mucopolysaccharidosis VII due to beta-glucuronidase deficiency (Mod Pathol 1994;7:132)