Substrate reduction therapy

Prenatal diagnosis is available for all the sphingolipidoses. This makes an early and reliable diagnosis of the utmost importance. For many of the sphingolipidoses, symptomatic treatment in the form of bone marrow transplantation, enzyme replacement therapy, substrate reduction therapy, or chemical chaperone therapy is... 

Keywords Enzyme replacement therapy Enzyme deficiency Lysosomal storage disease Substrate reduction therapy... 

Substrate reduction therapy (SRT) involves the inhibition of substrate synthesis to a level where the load falls within the capacity of the mutant enzyme that exhibits residual function (Platt and Jeyakumar, 2008). Thus this approach, as in the case of pharmacological chaperones, may be dependent on the type of mutation responsible for disease in an individual. 

Aerts JM, Hollak CE, Boot RG, Groener JE, Maas M. Substrate reduction therapy of glycosphingolipid storage disorders. 

Lachmann RH. Miglustat substrate reduction therapy for gly-cosphingolipid lysosomal storage diseases. Drugs Today (Bare.) 2006 42 29-38. 

Platt FM, Jeyakumar M, Andersson U, Heare T, Dwek RA, Butters TD. Substrate reduction therapy in mouse models of the glycosphingohpidoses. Philos. Trans. R. Soc. Lond B Biol. Sci. 2003 358 947-954. 

Bembi, B., Marchetti, F., Guerci, V. I., Ciana, G., Addobbati, R., Grasso, D., Barone, R., Cariati, R., Fernandez-Guillen, L., Butters, T., and Pittis, M. G., Substrate reduction therapy in the infantile form of Tay-Sachs disease. Neurology 66 (2006) 278-280. 

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