Mucopolysaccharidoses

K. Michals Matalon, Reuben Matalon

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

The mucopolysaccharidoses (MPS) are a group of inherited disorders caused by specific enzyme deficiencies in the degradation of glycosaminoglycans. Glycosaminoglycans accumulate in lysosomes, and partially degraded glycosaminoglycans are excreted in urine. Clinical features depend on the specific enzyme deficiency, the organs affected, and the accumulation of glycosaminoglycans in the affected organs. Some of the enzyme deficiencies affect the brain, leading to mental retardation. The storage of glycosaminoglycans leads to coarse facial features and abnormalities in the connective tissue and bones. Currently, the MPS are subject for clinical trials using enzyme therapy.

Original languageEnglish (US)
Title of host publicationEncyclopedia of the Neurological Sciences
PublisherElsevier Inc.
Pages135-138
Number of pages4
ISBN (Electronic)9780123851574
ISBN (Print)9780123851581
DOIs
StatePublished - Jan 1 2014

Keywords

  • Glycosaminoglycans
  • Hunter syndrome MPS II
  • Hurler syndrome MPS I
  • Lysosomal storage
  • Maroteaux-Lamy syndrome MPS VI
  • Morquio syndrome MPS IV
  • Multiple sulfatase
  • Sanfilippo syndromes MPS III
  • Scheie syndrome
  • Sly disease MPS VII

ASJC Scopus subject areas

  • Medicine(all)

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  • Cite this

    Michals Matalon, K., & Matalon, R. (2014). Mucopolysaccharidoses. In Encyclopedia of the Neurological Sciences (pp. 135-138). Elsevier Inc.. https://doi.org/10.1016/B978-0-12-385157-4.00105-6