Inherited metabolic disease

This review focuses on two genetic disorders of metal metabolism, genetic h emochromatosis and Wilson disease, and on the most common lysosomal storage disorder, Gaucher disease, for which recombinant enzyme replacement therap y is available. The discovery of the genes for these disorders has led to a n explosion of new information about the function of these gene products an d the identification of other proteins involved in their metabolism. These discoveries have altered our current diagnostic and therapeutic approaches to these disorders and have furthered our understanding of disease pathophy siology. New modalities being developed for future use include cell transpl ant and genetic replacement therapies. Curr Opin Gastroenterol 2000, 16:219 -230 (C) 2000 Lippincott William & Wilkins, Inc.