Definitions for "Alpha1-antitrypsin deficiency"
The most common pediatric inherited disease. Alpha1-antitrypsin is a substance made in the liver that stops the breakdown of important chemicals in many of the body's organs.
A genetic condition in which AAT is not released from the liver into the blood. As a result, the affected person does not have enough AAT throughout the body. Some individuals with AAT deficiency are not affected, but other individuals develop liver problems like cirrhosis and/or lung problems like emphysema.
Congenital lack of an enzyme that leads to cirrhosis of the liver and obstructive lung disease.