Term Name: alpha 1-antitrypsin deficiency
Synonyms: AAT deficiency
Definition: A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.
Ontology: Human Disease [DOID:13372]   ( DOID:13372 )

Relationships
is a type of: plasma protein metabolism disease