Children's Hospital Colorado
Pediatric Liver Center

Alpha-1 Antitrypsin Deficiency

We specialize in the big things, the small things and everything in between.

Best Children's Hospital by US News Gastroenterology 2020-1 Badge

Next Steps

Would you like to learn more about us?
Pediatric Liver Center
Do you have questions about your child’s condition?
Call
Want a second opinion?
Get started

What is alpha-1 antitrypsin deficiency?

Alpha-1 antitrypsin (AAT) deficiency is the most common genetic disorder leading to liver disease in infants and children. About 10 to 15% of children with alpha-1 antitrypsin deficiency will develop liver disease. In adults, it may also cause a serious lung disease called emphysema.

The deficiency is genetic, meaning that children inherit it from their parents.

What causes alpha-1 antitrypsin deficiency?

Genes make up our deoxyribonucleic acid (DNA), which acts as a blueprint for the body, telling it how to form and function. Alpha-1 antitrypsin deficiency is caused by mutations in the SERPINA1 gene that contains the instructions to make the alpha-1 antitrypsin protein.

Alpha-1 antitrypsin proteins are made in large amounts by the liver and put into the bloodstream to be distributed to the rest of the body. Because of these mutations in the SERPINA1 gene, the alpha-1 antitrypsin protein gets stuck in the liver, which causes inflammation (swelling) that can damage the liver.

Who gets alpha-1 antitrypsin deficiency?

Children inherit AAT deficiency from their parents. In general, people with the deficiency inherit one mutated copy of the SERPINA1 gene from each of their parents. It occurs in about one in every 3,500 births in the United States and is more common in Caucasians.

Next steps

Cartoon image of a patient and doctor having a telehealth call.

Keeping you safe, wherever you are

We're here when you need us with the same safe, high-quality care we've always offered, even during the pandemic. Now, in many cases, you can get that care without even leaving home because we offer virtual visits across every one of our specialties.

See if telehealth is right for your child