Mutation Analysis in Crigler-Najjar Syndrome Type II-Case Report and Literature Review

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.