title: The sphiningolipidoses: an overview.
abstract: An outline of the pathways of catabolism of four sphingolipids to ceramide, along with structural details of a few constituents, serves as a framework for better understanding of the sphingolipidoses. The four sphingolipids are sulfatide, sphingomyelin, globoside, and ganglioside GM1. Diseases which can be incorporated into the scheme include Niemann-Pick disease, Gaucher disease, metachromatic leukodystrophy, Krabbe disease, ceramide lactoside lipidosis, Tay-Sachs disease, generalized gangliosidosis, Fabry disease, and Sandhoff disease. Fucosidosis probably also belongs with this group. GM3 (hematoside) sphingolipodystrophy involves blocks in synthetic rather than catabolic pathways.
mesh_terms: D002517:Galactosylgalactosylglucosylceramidase / Q000378:metabolism; D005732:Gangliosides / Q000378:metabolism; D006028:Glycosphingolipids / Q000378:metabolism; D006801:Humans; D013106:Sphingolipidoses / Q000378:metabolism*; D013107:Sphingolipids / Q000378:metabolism*; D013109:Sphingomyelins / Q000378:metabolism; D013433:Sulfoglycosphingolipids / Q000378:metabolism
chemical_list: D005732:Gangliosides; D006028:Glycosphingolipids; D013107:Sphingolipids; D013109:Sphingomyelins; D013433:Sulfoglycosphingolipids; D002517:Galactosylgalactosylglucosylceramidase