A novel UGT1A1 gene mutation causing severe unconjugated hyperbilirubinemia: a case report

A novel UGT1A1 gene mutation causing severe unconjugated hyperbilirubinemia: a case report

Abstract Background Crigler-Najjar syndrome (CNs) presents as unconjugated hyperbilirubinemia, as a result of UGT1A1 deficiency, and can be categorized in a severe (type I) and mild (type II) phenotype. CNs type II patients usually benefit from phenobarbital treatment that induces residual UGT1A1 ac...

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Bibliographic Details
Main Authors: Xiaoxia Shi, Sem Aronson, Ahmed Sharif Khan, Piter J. Bosma
Format: Article
Language:English
Published: BMC 2019-05-01
Series:BMC Pediatrics
Subjects:
Crigler-Najjar syndrome
UGT1A1
HNF-1α
Genetic analysis
Online Access:http://link.springer.com/article/10.1186/s12887-019-1555-y

Internet

http://link.springer.com/article/10.1186/s12887-019-1555-y

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