Alpha-1 Antitrypsin Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** A genetic disorder characterized by decreased alpha-1 antitrypsin activity in the lungs and blood and deposition of alpha-1 antitrypsin protein in the hepatocytes. These abnormalities result from defective production of alpha-1 antitrypsin and lead to the development of emphysema, cirrhosis, and liver failure.

**Synonyms:** - A-1ATD - A1AD - Alpha 1-Antitrypsin Disease - Alpha-1-Antitrypsin Deficiency