| Literature DB >> 25755387 |
Piyush Ranjan1, Sudha Kohli2, Renu Saxena2, Seema Thakur3.
Abstract
Crigler-Najjar syndrome (CN) is a congenital defect in bilirubin conjugation due to complete or partial deficiency of uridine 5'-diphosphate-glucuronosyltransferase (UGT). It is of two types: CN type I and CN type II. Patients with CN type II present with indirect hyperbilirubinemia in adulthood. We report a CN type II with homozygous mutation in UGT1A1 gene. This is the first case report of mutation analysis in CN type II from India.Entities:
Keywords: CN, Crigler–Najjar syndrome; Crigler-Najjar syndrome; DNA, deoxyribonucleic acid; HBsAg, hepatitis B surface antigen; HCV, hepatitis C virus; UGT, uridine 5′-diphosphate-glucuronosyltransferase; UGT1A1 gene; indirect hyperbilirubinemia
Year: 2012 PMID： 25755387 PMCID： PMC3940311 DOI： 10.1016/S0973-6883(11)60239-9
Source DB: PubMed Journal: J Clin Exp Hepatol ISSN： 0973-6883