Gene therapy for the treatment of inborn errors of metabolism

作者：Perez Lopez Jordi^*

来源：Medicina Clinica, 2014, 142(12): 549-553.

DOI：10.1016/j.medcli.2013.05.030

• Gene therapy
• Inborn errors of metabolism
• Enzyme replacement therapy

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.

• 出版日期2014-6-16