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Identification of a novel mutation in UDP-glucuronosyltransferase (UGT1A1) gene in a child with neonatal unconjugated hyperbilirubinemia.

Clinical biochemistry - 1 Jan 2013

Minucci Angelo, Canu Giulia, Gentile Leonarda, Cimino Vincenzo, Giardina Bruno, Zuppi Cecilia, Capoluongo Ettore

Abstract excerpt

Genetic alterations of the UGT1A1 gene result in Crigler-Najjar (CNS) and Gilbert's (GS)-Syndromes, two autosomal recessive conditions characterized by non-hemolytic unconjugated hyperbilirubinemia. While GS is characterized by mild hyperbilirubinemia, CNS is classified as follows: type I (CNS-I), often associated with irreversible neurological damage due to total deficiency of the UGT1A1 enzyme activity, and...

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PMID: 23099197
DOI: 10.1016/j.clinbiochem.2012.10.007

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Identification of a novel mutation in UDP-glucuronosyltransferase (UGT1A1) gene in a child with neonatal unconjugated hyperbilirubinemia.PMID 23099197Read ↗

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