Rare Liver Diseases: Alpha-1 Antitrypsin Deficiency

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Alpha-1 antitrypsin deficiency is a deficiency of the protein AAT in the liver which protects the lungs. In alpha-1 antitrypsin deficiency, the liver makes the protein AAT which is not of the right shape and gets stuck in the liver without reaching the lungs. With this deficiency, the lungs are not sufficiently protected and the liver is injured due to buildup of the protein.