Learn about Alpha-1 Antitrypsin Deficiency, its causes, symptoms, and available resources to improve quality of life.

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Dec 13, 2023 · Alpha-1 antitrypsin (AAT) deficiency is a condition that can cause serious lung or liver disease. Symptoms often include trouble breathing and jaundiced, or yellow, skin. It's a genetic...

Mar 12, 2025 · Alpha-1 antitrypsin (AAT) deficiency puts you at greater risk for lung, liver or skin disease. AAT is normally produced in the liver and travels through the blood to protect the lungs and liver from inflammation.

Alpha-1 antitrypsin deficiency, or Alpha-1, is one of the most common serious genetic conditions worldwide. Alpha-1 can cause severe lung and/or liver disease and is a leading reason for lung transplantation in adults and liver transplantation in young children.

May 18, 2023 · Alpha-1 antitrypsin (A1AT) is a protein made by cells in the liver. It passes from the liver into the bloodstream and can travel to the lungs. Its main function is to protect the lungs from damage caused by other types of proteins called enzymes.

What causes Alpha-1? Alpha-1 is passed down from parents to children through genes. People with Alpha-1 have mutations in a gene called SERPINA1. The SERPINA1 gene provides instructions for making a protein called alpha-1 antitrypsin (AAT), which protects the body from damage by its immune cells.

Alpha-1 antitrypsin deficiency (AAT) is an inherited condition. Learn more about the symptoms, the inheritance pattern, and the risk factors for COPD. Jump to main content

Alpha-1-antitrypsin deficiency is a genetic disorder that occurs when there is a severe lack of a protein in the blood called alpha-1 antitrypsin (AAT). This protein is mainly produced by the liver. Alpha-1-antitrypsin deficiency (AATD) often goes undiagnosed because it manifests in …

Alpha-1 antitrypsin deficiency (Alpha-1) is a genetic condition which can cause lung, liver, and skin disease. There are an estimated 3,000 people with severe Alpha-1 (ZZ) and 250,000 with moderate Alpha-1 (MZ) on the island of Ireland.