Nov 20, 2008

Encyclopedia of Genetic Disorders | Alpha-1 antitrypsin

Definition

Alpha-1 antitrypsin is one of the most common inherited diseases in the Caucasian population. The most common symptom is lung disease (emphysema). People with alpha-1 antitrypsin may also develop liver disease and/or liver cancer. The disease is caused by a deficiency in the protein alpha-1 antitrypsin, which is why the condition is sometimes called alpha-1 antitrypsin deficiency. Other names include anti-elastase, antitrypsin, and ATT. The development of lung disease is accelerated by harmful environmental exposures, such as smoking tobacco. Alpha-1 antitrypsin is inherited. The age of onset, rate of progression, and type of symptoms vary both between and within families.

Description

The protein alpha-1 antitrypsin is a protease inhibitor, which means that it inactivates other...

[The entire page is 3273 words long]

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