Manifestations of Inherited Disorders of Bilirubin Glucuronidation During Infancy and Childhood
作者： Namita Roy Chowdhury , Yaron Ilan , Jayanta Roy Chowdhury
DOI: 10.1007/978-1-4612-1808-1_23
关键词: S syndrome 、 Syndrome type 、 Arias syndrome 、 Biliary excretion 、 Serum bilirubin level 、 Bilirubin 、 Unconjugated hyperbilirubinemia 、 Endocrinology 、 Medicine 、 Glucuronidation 、 Internal medicine
摘要: Biliary excretion of bilirubin requires its conversion to glucuronides by the hepatic microsomal enzyme bilirubin-UDP-glucuronosyltransferase (bilirubin-UGT) (1). Three grades inherited deficiency bilirubin-UGT have been described. A near-absence activity results in most severe these disorders, Crigler-Najjar syndrome type I. Severe, but incomplete, transferase leads II, also known as Arias syndrome. mild reduction is common, and produces innocuous Gilbert’ s syndrome, which a low level hyperbilirubinemia only significant clinical feature (2).
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