Gene Repair For Inborn Errors of Metabolism: What is it and when might it become available?
We have all heard about the possibility that gene therapy could be developed to treat PKU and other serious diseases that are caused by a mutant or “misspelled” gene. So far that possibility has seemed to be just out of reach. Traditional methods of gene therapy try to take a “normal copy” of the gene that is causing the disease and deliver it to the cells in the patients body that are crippled by the defect with the hope that this new “normal” gene will reverse the disease. Most examples attempt to use a modified virus to carry the “corrective” gene into the patients cells. This treatment has worked in some very special cases, especially where the diseased cells from a patient can be removed from the body and the corrective gene inserted while the cells are growing in a test tube. Then these “corrected” cells can be given back to the patient, resulting in clinical improvement. Unfortunately, for PKU, maple syrup urine disease (MSUD), ornithine transcarbamylase deficiency (OTC), and th
