Biochemical approaches to the nosology of nervous system defects, II.
The nature of the metabolic defects in all of the major lipid storage diseases has been established within the past four years. This infromation has come primarily from extensive enzymologic studies in human tissues using labeled complex lipids as substrates. A brief description is presented of the background and experiments which led to the identification of the biochemical lesion in Gaucher's disease, Niemann-Pick disease, Fabry's disease, and Tay-Sachs disease.
D001921:Brain / Q000201:enzymology / Q000378:metabolism*; D002250:Carbon Radioisotopes; D002478:Cells, Cultured; D002518:Ceramides / Q000378:metabolism; D002554:Cerebrosides / Q000378:metabolism; D000795:Fabry Disease / Q000378:metabolism; D005347:Fibroblasts / Q000378:metabolism; D005732:Gangliosides / Q000378:metabolism; D005776:Gaucher Disease / Q000378:metabolism; D006801:Humans; D007962:Leukocytes / Q000378:metabolism; D008064:Lipidoses / Q000378:metabolism; D009542:Niemann-Pick Diseases / Q000378:metabolism; D010727:Phosphoric Diester Hydrolases / Q000172:deficiency; D010770:Phosphotransferases / Q000172:deficiency; D013106:Sphingolipidoses / Q000145:classification*; D013109:Sphingomyelins / Q000378:metabolism; D013429:Sulfatases / Q000172:deficiency; D014316:Tritium
D002250:Carbon Radioisotopes; D002518:Ceramides; D002554:Cerebrosides; D005732:Gangliosides; D013109:Sphingomyelins; D014316:Tritium; D010770:Phosphotransferases; D010727:Phosphoric Diester Hydrolases; D013429:Sulfatases