Genetic and Metabolic Liver diseases
There are many inherited metabolic and genetic disorders that may have a pathologic impact on the liver. Haemochromatosis, Gilbert syndrome and Wilson’s disease are genetic disorders caused by accumulation of iron, bilirubin and copper in the liver. Alpha1-antitrypsin (α1-AT) deficiency is a disorder in which the normal processing of a liver-produced protein is disturbed within the liver cell.
Metabolic liver disease is a disorder in which abnormal chemical reactions in the body disrupt the body’s metabolism. Most are due to a defect of an enzyme/transport protein that alters a metabolic pathway and exerts a pathogenic role mainly in the liver. Inherited liver diseases are a group of metabolic and genetic defects that typically cause early chronic liver involvement.
- Wilson Disease
- Alpha-1-Antitrypsin Deficiency