New therapeutic prospects for the glycosphingolipid lysosomal storage diseases.

摘要: The glycosphingolipid (GSL) lysosomal storage diseases result from mutations in the genes that encode enzymes required for catabolism within lysosomes. They are relatively rare diseases, but frequently severe terms of their pathology. Many involve progressive neurodegeneration, and most forms death early infancy. therapeutic options treating these limited, majority disorders there currently no therapies available. To date, research has focused on correcting genetic lesion by gene therapy or augmenting enzyme activity deficient patients introducing fully functional enzyme. This can be achieved bone marrow transplantation intravenous infusion purified recombinant (enzyme replacement). Gene replacement disease specific, pharmacological approaches treatment have not been explored. In this commentary, problems associated with discussed, a agent (N-butyldeoxynojirimycin) is presented potential generic family disorders. Successful prevention mouse model Tay-Sachs suggests strategy merits clinical evaluation. BIOCHEM PHARMACOL 56;4:421-430, 1998. © 1998 Elsevier Science Inc.