Crigler-Najjar syndrome

Definition:

Crigler-Najjar (CN) syndrome is a familial unconjugated hyperbilirubinemia. It is caused by deficiency of bilirubin-UDP-glucuronosyltransferase (UGT1A1) which is involved in the detoxification of bilirubin. There are two forms of CN. CN-1 is characterized by almost complete absence of UGT1A1 enzyme activity. Left untreated, CN-1 almost invariably results in death from bilirubin encephalopathy (kernicterus). CN-2 is characterized by intermediate levels of hyperbilirubinemia, due to a severe, but incomplete lack of UGT1A1 activity.

References:

[1]. Elísio Costa, et al. Hematologically important mutations: bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler-Najjar syndromes. Blood Cells Mol Dis. 2006 Jan-Feb;36(1):77-80. [Content Brief]

[2]. J K Ritter, et al. Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient. J Clin Invest. 1992 Jul;90(1):150-5. [Content Brief]

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