Alpha-1 Antitrypsin Deficiency
Also known as:
📋Overview
Alpha-1 Antitrypsin Deficiency is a genetic disorder caused by mutations in the SERPINA1 gene, which provides instructions for making the alpha-1 antitrypsin protein. This protein is normally produced in the liver and travels through the bloodstream to protect the lungs from damage caused by inflammation and environmental irritants.
Individuals with this condition produce an abnormal version of the protein that can become trapped in the liver cells instead of reaching the lungs. This mechanism can result in insufficient protein levels to protect the lungs and may also lead to liver injury due to the protein accumulation.
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Additional Resources
Medical codes (for reference)
UMLS CUI: C0221757Codes are provided for reference and interoperability. They are not a diagnosis.
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