ALAGILLE SYNDROME
\ɐlˈaɡɪl sˈɪndɹə͡ʊm], \ɐlˈaɡɪl sˈɪndɹəʊm], \ɐ_l_ˈa_ɡ_ɪ_l s_ˈɪ_n_d_ɹ_əʊ_m]\
Sort: Oldest first
-
Hypoplasia of the hepatic ducts, congenital pulmonary artery stenosis, facial abnormalities, and other congenital malformations, particularly skeletal. It is often presented as jaundice during the neonatal period. It is an autosomal recessive disease generally manifesting during childhood. "Arteriohepatic" refers to the pulmonary artery and the intrahepatic bile ducts, not to the hepatic artery.
By DataStellar Co., Ltd
Word of the day
Dopamine Acetyltransferase
- An enzyme that catalyzes the of groups from acetyl-CoA to arylamines. They have wide specificity for aromatic amines, particularly serotonin, and can also catalyze acetyl transfer between arylamines without CoA. EC 2.3.1.5.