Mucopolysaccharide storage disorders

Filocamo, Mirella, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 and Di Rocco, Maja 2011. Mucopolysaccharide storage disorders. Encclopedia of Life Sciences (ELS), Wiley-Blackwell, (10.1002/9780470015902.a0006095)

Full text not available from this repository.

Abstract

The mucopolysaccharidoses (MPSs) are a group of 11 distinct metabolic disorders that result from the deficiency of the various lysosomal enzymes required to degrade the glycosaminoglycans (GAGs) that constitute a major component of the extracellular matrix, joint fluid and connective tissue. The progressive lysosomal accumulation of GAGs ultimately impairs joint mobility and adversely affects the skeleton and cardiovascular system. Depending on the type or subtype of mucopolysaccharidosis, mental development may range from normal to profoundly impaired. Enzymatic and molecular diagnostic testing are available for all the MPSs. Hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT) are the only specific treatments for MPS currently available.

Item Type:	Book Section
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Publisher:	Wiley-Blackwell
Last Modified:	02 Nov 2022 09:59
URI:	https://orca.cardiff.ac.uk/id/eprint/97059

Actions (repository staff only)

Edit Item