Alpha-1-antitrypsin deficiency autosomal recessive

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.

Disease Alternative Name

a-1atd
a1ad
alpha-1 antitrypsin
alpha-1 antitrypsin deficiency
alpha-1-antitrypsin deficiency
alpha 1-antitrypsin disease
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