The lipid storage diseases: new concepts and control.
The nature of the enzymatic defect is now well established in ten inherited disorders of lipid metabolism. This information has provided for the development of facile, sensitive tests using readily available materials such as washed leukocytes or cultured skin fibroblasts for the diagnosis of these disorders; the detection of heterozygous carriers of these traits; and the monitoring of pregnancies at risk for any of these conditions. Recent investigations of enzyme replacement therapy have shown great promise for the treatment of patients with Fabry's disease and those with the adult form of Gaucher's disease. Additional procedures must be developed for successful enzyme replacement in patients where the central nervous system is damaged by the accumulation of lipids.
D000328:Adult; D002518:Ceramides; D002554:Cerebrosides; D000795:Fabry Disease / Q000175:diagnosis / Q000188:drug therapy; D005260:Female; D005696:Galactosidases / Q000172:deficiency / Q000627:therapeutic use; D005776:Gaucher Disease / Q000175:diagnosis / Q000188:drug therapy; D005959:Glucosidases / Q000172:deficiency / Q000627:therapeutic use; D006596:Hexosaminidases / Q000172:deficiency / Q000627:therapeutic use; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis / Q000188:drug therapy; D008064:Lipidoses / Q000175:diagnosis / Q000188:drug therapy; D008297:Male; D009542:Niemann-Pick Diseases / Q000175:diagnosis / Q000188:drug therapy; D010727:Phosphoric Diester Hydrolases / Q000172:deficiency; D011247:Pregnancy; D011248:Pregnancy Complications / Q000175:diagnosis; D013109:Sphingomyelins
D002518:Ceramides; D002554:Cerebrosides; D013109:Sphingomyelins; D010727:Phosphoric Diester Hydrolases; D005696:Galactosidases; D005959:Glucosidases; D006596:Hexosaminidases