INHERITED METABOLIC DISEASE

The ongoing evolution in our understanding of inherited metabolic diso rders that affect the liver has been spurred on by the discovery of th e responsible genes. Numerous recent studies have explored the molecul ar basis and pathophysiology of these disorders and their correlation with clinical disease expression. Although there are many metabolic di sorders for which the responsible genes are now known, remarkable prog ress has been made in the study of disorders of copper and iron metabo lism. The following discussion focuses on how recent developments have added to our understanding of genetic hemochromatosis and disorders o f iron overload, and of copper metabolism and Wilson's disease. This n ew information directly impacts our ability to diagnose and treat thes e disorders, posing new challenges to clinicians and scientists alike.