Basic findings and current developments in sphingolipidoses.
Sphingolipidoses are caused by recessively inherited deficiencies of lysosomal hydrolases. The clinical backgrounds of and current biochemical and genetic approaches to the different forms and variants of gangliosidoses, trihexosylceramidosis (Fabry's disease), galactosylceramidosis (Krabbe's disease), sulfatidoses (metachromatic leukodystrophies), glucosylceramidosis (Gaucher's disease), sphingomyelinoses (Niemann-Pick disease) and ceramidosis (Farber's disease) are presented.
D000795:Fabry Disease / Q000235:genetics; D005260:Female; D002517:Galactosylgalactosylglucosylceramidase / Q000172:deficiency; D005732:Gangliosides / Q000378:metabolism; D005733:Gangliosidoses / Q000235:genetics; D005776:Gaucher Disease / Q000235:genetics; D005808:Genes, Recessive; D005962:Glucosylceramidase / Q000172:deficiency; D006596:Hexosaminidases / Q000172:deficiency; D006801:Humans; D007965:Leukodystrophy, Globoid Cell / Q000235:genetics; D007966:Leukodystrophy, Metachromatic / Q000235:genetics; D008064:Lipidoses / Q000235:genetics; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D009542:Niemann-Pick Diseases / Q000235:genetics; D012497:Sandhoff Disease / Q000235:genetics; D013106:Sphingolipidoses / Q000235:genetics*; D013108:Sphingomyelin Phosphodiesterase / Q000172:deficiency; D013429:Sulfatases / Q000172:deficiency; D013661:Tay-Sachs Disease / Q000235:genetics
D005732:Gangliosides; D013108:Sphingomyelin Phosphodiesterase; D013429:Sulfatases; D006596:Hexosaminidases; D005962:Glucosylceramidase; D002517:Galactosylgalactosylglucosylceramidase