Abstract
The mucopolysaccharidoses (MPSs) are a group of inherited disorders caused by specific enzyme deficiencies in the degradation of glycosaminoglycans (GAGs) (formerly known as mucopolysaccharides). Enzyme deficiencies result in the accumulation of GAGs in lysosomes of various tissues and in the excessive excretion of partially degraded GAGs in the urine. The GAGs that are stored and excreted in the urine include dermatan sulfate, heparan sulfate, keratan sulfate, and chondroitin 4/6 sulfates. Clinical manifestations of the MPSs depend on the specific enzyme deficiency, the end organ affected, and the accumulation of GAGs in the affected organs. Specific degradative lysosomal enzyme deficiencies and gene defects have been identified for all of the MPSs. Currently, treatment for some of the disorders includes hematopoietic stem cell transplant and enzyme replacement therapy.
Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callMore From: Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
