The Mucopolysaccharidoses

Reuben Matalon, Kimberlee Michals Matalon, Geetha L. Radhakrishnan

Research output: Chapter in Book/Report/Conference proceedingChapter


The mucopolysaccharidoses are a group of inherited disorders caused by specific enzyme deficiencies in the degradation of the glycosaminoglycans (mucopolysaccharides). Enzyme deficiencies result in the accumulation of glycosaminoglycans in lysosomes of various tissues and in the excessive excretion of partially degraded glycosaminoglycans in urine. Clinical manifestations of the mucopolysaccharidoses depend on the specific enzyme deficiency, the end organ affected, and the accumulation of glycosaminoglycans in the affected organs. In diseases in which the brain is not involved, there is no mental retardation. On the other hand, if the brain is affected and other somatic manifestations are minimal, the coarse features that are characteristic of the mucopolysaccharidoses are not as prominent. Specific degradative lysosomal enzyme deficiencies have been identified for all the mucopolysaccharidoses. The glycosaminoglycans that are stored and excreted in the urine of the various mucopolysaccharidoses are dermatan sulfate, heparan sulfate, keratan sulfate, and chondroitin 4/6 sulfates.

Original languageEnglish (US)
Title of host publicationRosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease
Subtitle of host publicationFifth Edition
PublisherElsevier Inc.
Number of pages17
ISBN (Electronic)9780124105294
ISBN (Print)9780124105492
StatePublished - Nov 13 2014


  • Coarse facial features
  • Dysostosis multiplex
  • Glycosaminoglycans
  • Hepatosplenomegaly
  • Multiple sulfatase
  • Stiff joints
  • α-L-Iduronidase

ASJC Scopus subject areas

  • General Medicine


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