Diagnoses of the Sphingolipidoses with Labelled Natural Substrates

  • Lars Svennerholm
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 101)


The number of sphingolipid storage diseases is the object of some disagreement. In Table I, eigh t diseases are delineated. Some researchers classify Sandhoff disease as a separate entity but we consider it a variant form of GM2-gangliosidosis. In our opinion it would be more appropriate to include the fucosidosis in which there is a storage of several neutral fucolipids and probably also of fucose-containing gangliosides (3, 4). The last disease is, in general, included among the oligosaccharidoses in most classification schemes and it is a good example of the difficulty in classifying diseases in which there is a genetic lesion of a lysosomal enzyme. These enzymes have a low degree of specificity and they are generally not specific for a given substance, but act on a certain type of linkage e.g. on a ß-galactosidic linkage in the GM1-gangliosidosis. This linkage can then be localized in a lipid, an oligosaccharide, a glycoprotein or a glycosaminoglycan.


Fabry Disease Gauche Disease Synthetic Substrate Sodium Taurocholate Amniotic Fluid Cell 
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Copyright information

© Plenum Press, New York 1978

Authors and Affiliations

  • Lars Svennerholm
    • 1
  1. 1.Department of Neurochemistry, Psychiatric Research CentreUniversity of Göteborg, S:t Jörgen HospitalHisings Backa 3Sweden

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