What is alpha-1-antitrypsin deficiency (A1AT)?
A1AT is a chemical normally produced in the liver. When working properly, this chemical travels through the blood to inhibit the effects of excess protein-destroying chemicals produced by white blood cells. The body maintains an efficient balance between the chemicals used by white blood cells to fight infection and chemicals used to control these effects. People born with the gene defect associated with A1AT deficiency produce abnormal A1AT that gets stuck in liver cells. This causes two problems: 1. Excess abnormal A1AT damages liver cells and causes inflammation in the liver of children. 2. The lack of normal A1AT in the blood leads to lung damage in adults.
