Alpha-1-antitrypsin (AAT) deficiency is a rare genetic disorder characterized by hepatitis in neonates, childhood and adulthood (protease inhibitor (PI)*ZZ) and emphysema with or without hepatitis (PI*ZZ)/(PI*SS,SZ or null) in adulthood[1].
AAT deficiency is a rare genetic disorder that can lead to a serious bleeding disorder in the neonatal period if not recognised on time
1.aKats-Ugurlu G, Hogeveen M, Driessen A, van den Ouweland AMW, Hulsbergen-van de Kaa C. Diagnosis of alpha-1-antitrypsin deficiency in bleeding disorder-related neonatal death.Eur J Pediatr. 2011 Jan;170(1):103-6. doi: 10.1007/s00431-010-1280-x. Epub 2010 Sep 2. [PMID: 20811907] [PMCID: 3016164] [DOI: 10.1007/s00431-010-1280-x]