The mutual impact of transplantation and advances in the understanding and treatment of metabolic diseases

The impact of transplantation on the treatment of inherited disease is just beginning, but several lessons have already been learned. If immunologic rejection can be overcome, it will be the treatment of choice for many, but not all diseases. In some diseases, the graft will be able to function as a metabolic detoxifier. In others, the graft will provide a continuous source of enzyme for transport to the site of metabolite accumulation. In others, however, transplantation will not be appropriate, and intracellular or genetic engineering will be required. Transplantation in animal models will provide a tool for developing strategies in the treatment of metabolic diseases and for determining the level at which the defect is treatable. Transplantation has already lead to an understanding of the pathophysiology in a variety of inborn metabolic disorders - illustrated by the osteopetrosis story. Conversely, advances in the understanding of other metabolic diseases have provided new ideas for application to transplantation and have stimulated new experiments in transplantation immunology - illustrated r151w9 =medicine - ancient by the adenosine deaminase story. Finally, transplantation is a positive approach to the treatment of inborn metabolic diseases. This alternative to the negative approach of prenatal diagnosis and selected abortion may be its most important contribution - a reaffirmation of the healing and life-saving mission of medicine-ancient and contemporary.