Inherited metabolic disease

摘要

The elucidation of metabolic pathways and the genetic basis for diseases of the liver continues to increase our understanding of disease pathogenesis and advance treatment options. This selective review covers a wide range of subjects, from the identification of novel proteins and the importance of specific transport pathways to phenotypic expression of disease and management of acute liver failure. Three selected disorders-Wilson disease, genetic hemochromatosis and other hereditary iron overload disorders, and alpha_1-antitrypsin disease-are the focus of this review.