Alpha 1-antitrypsin deficiency (a1-antitryspin deficiency, A1AD or Alpha-1) is a genetic disorder caused by defective production of alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. Severe A1A deficiency causes emphysema and/or COPD (Chronic Obstructive Pulmonary Disease) in adult life in nearly all people with the condition, as well as various liver diseases in a minority of children and adults, and occasionally more unusual problems. Alpha 1-antitrypsin (A1AT) is produced in the liver, and one of its functions is to protect the lungs from the neutrophil elastase enzyme, which can disrupt connective tissue