Hipertransaminazemia w przebiegu niedoboru α1-antytrypsyny u 14-miesięcznego chłopca

α1-antitripsin deficiency is kind of defect caused by mutation of α1-antitrypsin gene (SERPI-NA1). Normal level of α1-antitripsin maintains of proteases - antiproteases equilibrium. This defect is one of the most common genetic causes of hepatic insufficiency. In infancy it usually manifests as raised values of livers' enzymes. We present the 14-month-old boy with α1-antitripsin deficiency manifested by raised activity of liver enzymes.