What is alpha-1 antitrypsin deficiency (AATD)?
AATD is caused by a mutation of the gene that produces the alpha-1 antitrypsin protein. The alpha-1 protein is designed to protect tissues in the body from being attacked by its own enzymes. Children with AATD either do not produce enough of the alpha-1 protein or the protein produced is abnormal and, therefore, is not released into the bloodstream as it should be. The liver injury in AATD is caused by accumulation of the abnormal protein produced within liver cells. Some people with AATD do not have liver disease, and in others severe disease can lead to cirrhosis of the liver. The reasons for this are not fully understood.
