Inborn Errors of Hepatic Metabolism

Inborn Errors of Hepatic Metabolism Inborn errors of hepatic metabolism are a class of heterogeneous, rare diseases that affect the activity of the liver. Most commonly, they are caused by mutations in a single enzyme or transport protein that has a crucial role in one of the many metabolic processes that are performed by hepatocytes. The outcome of such mutations depends on the pathway affected; however, most lie within 2 broad categories. In 1 category, the mutations result in structural damage to the liver and some cases also impact peripheral tissues. In the second group, mutations affect a pathway in the liver, yet the liver itself is relatively healthy while peripheral organs are affected as a secondary consequence.