Abstract
Inherited disorders of liver metabolism are in general due to single enzyme defects that result in abnormalities in the synthesis or catabolism of proteins, carbohydrates, or lipids. This group of diseases comprises disorders of the amino acid, iron, bilirubin and sphingolipid metabolism as well as disorders of the coagulation cascade, the urea cycle and diverse transport processes. These diseases either lead to structural liver damage or, if the defective enzyme is produced predominantly in the liver, to injury to other organ systems. In this review article, we discuss the pathogenesis, clinical presentation, diagnosis and therapy of hereditary hemochromatosis, Wilson's disease and alpha1-antitrypsin-deficiency which represent the most common hereditary liver diseases.
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