Genetic liver diseases
Genetic mutations can lead to conditions that affect the liver. These are relatively rare diseases, two of which involve the excess buildup of minerals in the body.
- Hemochromatosis – an iron metabolism disorder that leads to excessive buildup of iron in tissues and organs. It may be genetic (inherited) or acquired and can cause organ failure, particularly of the liver, heart, and pancreas. For more information, see the article on Hemochromatosis.
- Wilson disease – a copper metabolism disorder that leads to excessive buildup of copper in the liver. It results from an inherited genetic mutation and can cause liver, brain, and kidney damage. For more information, see the article on Wilson Disease.
Alpha-1 antitrypsin deficiency
Alpha-1 antitrypsin (AAT) is a protein that helps protect the lungs. It is produced in the liver at the direction of two copies of a protease inhibitor (SERPINA1) gene. If there is a change or mutation in one or both of the gene copies, then less AAT and/or dysfunctional AAT is produced. If AAT production is 30% of normal or less, then an affected person will experience alpha-1 antitrypsin deficiency and have an increased risk of developing emphysema. When AAT is dysfunctional, it tends to accumulate in the liver, forming abnormal protein chains and damaging the liver. About 10% of newborns affected with AAT deficiency are jaundiced. AAT deficiency is currently the most common genetic cause of liver disease in children.