Genetic liver diseases
Genetic mutations can lead to conditions that affect the liver. These are relatively rare diseases.
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 the affected person will experience alpha-1 antitrypsin deficiency and be at an increased risk of developing emphysema. If the AAT produced is dysfunctional, it tends to accumulate in the liver, forming abnormal protein chains and damaging the liver. About 10% of those affected with AAT deficiency will be jaundiced as a newborn. AAT deficiency is currently the most common genetic cause of liver disease in the pediatric population.
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