Primary prevention of inherited disorders. Present and future possibilities.
Two models are presented of active prevention of human inherited diseases. In the first case, prevention of neural tube defects in man and mouse is achieved by the administration of vitamin A or a vitamin complex. In the second instance, correction of lysosomal enzyme deficiencies, research is in progress to identify cells which produce the missing enzyme and cannot be acutely rejected once transplanted in affected patients. Both attempts are still surrounded by controversy and uncertainties and are based on empirical grounds since little is yet known about the cause of the defects at molecular level.
D000650:Amnion / Q000201:enzymology / Q000276:immunology / Q000637:transplantation*; D000818:Animals; D004848:Epithelium / Q000637:transplantation; D006649:Histocompatibility Antigens / Q000032:analysis; D006801:Humans; D008247:Lysosomes / Q000201:enzymology*; D008661:Metabolism, Inborn Errors / Q000628:therapy*; D008722:Methods; D051379:Mice; D008818:Mice, Neurologic Mutants; D009436:Neural Tube Defects / Q000517:prevention & control*; D014801:Vitamin A / Q000627:therapeutic use*
D006649:Histocompatibility Antigens; D014801:Vitamin A