Glycolipid, Mucopolysaccharide and Carbohydrate Distribution in Tissues, Plasma and Urine from Glycolipidoses and other Disorders

Complex Nature of the Accumulated substances
  • M. Philippart
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 25)


The concept of storage disorders has been long a favorite with clinicians and pathologists. It may have become somewhat distorted. For the biochemist the study of these conditions has been rewarding, providing a wealth of data about which meaningful discussions of the pathogenesis are now possible. Indeed the characterization of a substance accumulated in tissues allows us to predict and test precisely the enzymes involved in its metabolism. The development of de Duve’s lysosomal theory (1) and its application by Hers (2) to the problem of storage disorders secondary to the deficiency of a specific lysosomal enzyme has now provided a rational explanation to the pathogenesis of the sphingolipidoses. Mucopolysaccharide storage disorders have also been assumed to represent other examples of lysosomal pathology (3). The deficiency of specific proteins, possibly lysosomal enzymes, which have not been characterized yet, have now been demonstrated in several variants (Hurler, Hunter, San Filippo a and b, and Maroteaux-Lamy) (4). The catabolism of mucopolysaccharides in man is still poorly understood and the heterogeneous nature of the substances accumulated or excreted in a single variant has until now hindered the discovery of the single enzyme deficiency which is theoretically expected.


Grey Matter Storage Material Metachromatic Leukodystrophy Galactosyl Ceramide Glucosyl Ceramide 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Plenum Press, New York 1972

Authors and Affiliations

  • M. Philippart
    • 1
  1. 1.Mental Retardation CenterThe Neuropsichiatric InstituteLos AngelesUSA

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