Inherited metabolic disease.
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.
Schilsky
Michael L
ML
Department of Medicine, Division of Liver Diseases, and Recanati/Miller Transplantation Institute, Mount Sinai School of Medicine, New York, New York 10029, USA. michael.schilsky@mssm.edu