Diagnoses of the Sphingolipidoses with Labelled Natural Substrates
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.
KeywordsFabry Disease Gauche Disease Synthetic Substrate Sodium Taurocholate Amniotic Fluid Cell
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