[Gene therapy for the treatment of inborn errors of metabolism].
Due to the enzymatic defect in inborn errors of metabolism, there is a blockage in the metabolic pathways and an accumulation of toxic metabolites. Currently available therapies include dietary restriction, empowering of alternative metabolic pathways, and the replacement of the deficient enzyme by cell transplantation, liver transplantation or administration of the purified enzyme. Gene therapy, using the transfer in the body of the correct copy of the altered gene by a vector, is emerging as a promising treatment. However, the difficulty of vectors currently used to cross the blood brain barrier, the immune response, the cellular toxicity and potential oncogenesis are some limitations that could greatly limit its potential clinical application in human beings.
Unidad de Errores Congénitos del Metabolismo en el Adulto, Servicio de Medicina Interna, Hospital General Universitario Vall d'Hebron, Barcelona, España. Electronic address: jordpere@vhebron.net.
Jordi
J
Pérez-López
D015316:Genetic Therapy / Q000379:methods*; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000235:genetics / Q000628:therapy*; D016896:Treatment Outcome
Errores congénitos del metabolism, Tratamiento enzimático sustitutivo; Gene therapy; Inborn errors of metabolism, Enzyme replacement therapy; Terapia génica