The Degradation of Acid Mucopolysaccharides and the Mucopolysaccharidoses

  • Albert Dorfman
  • Reuben Matalon
  • J. Anthony Cifonelli
  • Jerry Thompson
  • Glyn Dawson
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 19)


Since the original clinical descriptions by Hunter (18) and Hurler (19), a vast literature has appeared which is concerned with a group of genetic diseases characterized by the accumulation in tissues and excretion in urine of acid mucopolysaccharides. These studies have been reviewed by McKusick (28) and Dorfman and Matalon (11,12). The term mucopolysaccharidoses was originally suggested by Brante (1) who discovered that the storage material present in livers of Hurler patients contained the characteristic components of acid mucopolysaccharides. Subsequently, Dorfman and Lorincz (10) showed that heparan sulfate and dermatan sulfate were excreted in large quantities in the urine of patients with Hurler’s syndrome. The basis of accumulation of acid mucopolysaccharides in these diseases has been subject to much speculation. The discovery by Van Hoof and Hers (31) of distended lysosomes in livers of patients with Hurler’s disease and the demonstration by Neufeld and coworkers (4,15,16,17,22,29,32) of the existence of “corrective factors” has strongly indicated the probability that these diseases result from deficiency of lysosomal acid hydrolases. However, in contrast to the lipid storage diseases, limited knowledge is available concerning the specific enzymic defects of the mucopolysaccharidoses. To some extent this is due to inadequate information regarding the normal catabolic pathways of these compounds and lack of knowledge concerning the detailed structure of the accumulated polysaccharides.


Hyaluronic Acid Heparan Sulfate Dermatan Sulfate Acid Mucopolysaccharide Hunter Syndrome 
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Copyright information

© Springer Science+Business Media New York 1972

Authors and Affiliations

  • Albert Dorfman
    • 1
  • Reuben Matalon
    • 1
  • J. Anthony Cifonelli
    • 1
  • Jerry Thompson
    • 1
  • Glyn Dawson
    • 1
  1. 1.Departments of Pediatrics and Biochemistry, Joseph P. Kennedy, Jr,, Mental Retardation Research Center and La Rabida-University of Chicago InstituteUniversity of ChicagoUSA

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