Investigations in enzyme replacement therapy in lipid storage diseases.
Enzyme replacement appears to offer much promise as specific therapeutic procedures for patients with Fabry's disease and Gaucher's disease. However, enzyme replacement in patients with Tay-Sachs disease and other heritable metabolic disorders where the central nervous system is affected will require first the development of effective methods for the delivery of exogenous enzymes to the brain; such methods are not yet available.
D000293:Adolescent; D001812:Blood-Brain Barrier; D057487:Enzyme Therapy; D000795:Fabry Disease / Q000188:drug therapy; D005260:Female; D002517:Galactosylgalactosylglucosylceramidase / Q000627:therapeutic use; D005776:Gaucher Disease / Q000188:drug therapy; D005962:Glucosylceramidase / Q000627:therapeutic use; D006596:Hexosaminidases / Q000378:metabolism / Q000627:therapeutic use; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000188:drug therapy*; D008064:Lipidoses / Q000188:drug therapy / Q000201:enzymology; D008099:Liver / Q000201:enzymology; D008297:Male; D008875:Middle Aged
D006596:Hexosaminidases; D005962:Glucosylceramidase; D002517:Galactosylgalactosylglucosylceramidase