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Liver Disorders

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Alpha-1-antitrypsin Deficiency

Alpha1-antitrypsin is a plasma protein produced in the liver to slow down the release of enzymes that break down protein, such as trypsin. A deficiency of alpha1-antitrypsin can lead to hepatitis and metabolic disorders in infants, children and teens, and occasionally, adults.

Alpha1-antitrypsin deficiency is the most common inherited cause of liver disease and the most common disorder for which children have a liver transplant. Though rare in Asians and African Americans, it's estimated to affect one in 1,600 to 2,000 newborns of Caucasian heritage.

Newborns and infants typically present with persistent jaundice and elevated transaminases (an enzyme). Children aged one to 10 present with severe liver problems, an enlarged liver and elevated transaminases. School age children and adolescents similarly present, with increased venous pressure in the liver (portal hypertension) leading to an enlarged spleen. In adults, clinical manifestations include cirrhosis, abnormal liver growth, bronchitis or chronic obstructive pulmonary disease (COPD).