Manifestations of Inherited Disorders of Bilirubin Glucuronidation During Infancy and Childhood

  • Namita Roy Chowdhury
  • Yaron Ilan
  • Jayanta Roy Chowdhury
Part of the Current Clinical Practice book series (CCP)

Abstract

Biliary excretion of bilirubin requires its conversion to glucuronides by the hepatic microsomal enzyme bilirubin-UDP-glucuronosyltransferase (bilirubin-UGT) (1). Three grades of inherited deficiency of bilirubin-UGT have been described. A near-absence of bilirubin-UGT activity results in the most severe of these disorders, Crigler-Najjar syndrome type I. Severe, but incomplete, deficiency of the transferase activity leads to Crigler-Najjar syndrome type II, also known as Arias syndrome. A mild reduction of bilirubin-UGT activity is the most common, and produces the innocuous Gilbert’ s syndrome, in which a low level of hyperbilirubinemia is the only significant clinical feature (2).

Keywords

Toxicity Albumin Urea Shrinkage Bilirubin 

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Suggested Reading

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Copyright information

© Springer Science+Business Media New York 1998

Authors and Affiliations

  • Namita Roy Chowdhury
  • Yaron Ilan
  • Jayanta Roy Chowdhury

There are no affiliations available

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