A case report of a novel 22 bp duplication within exon 1 of the UGT1A1 in a Sudanese infant with Crigler-Najjar syndrome type I

A case report of a novel 22 bp duplication within exon 1 of the UGT1A1 in a Sudanese infant with Crigler-Najjar syndrome type I

Abstract Background Crigler Najjar type 1 is a rare autosomal recessive condition caused by the absence of UDPGT enzyme due to mutations in the UGT1A1 gene. This enzyme is responsible for elimination of unconjugated bilirubin from the body by glucuronidation. Affected individuals are at risk for ker...

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Bibliographic Details
Main Authors: Sailaja Valmiki, Kiran Kumar Mandapati, Leela Krishna Vamsee Miriyala, Chayarani Chandrashekhar Kelgeri, Mohamed Rela, Naresh P. Shanmugam, Durga Rao Vegulada
Format: Article
Language:English
Published: BMC 2020-03-01
Series:BMC Gastroenterology
Subjects:
Crigler-Najjar syndrome
Autosomal recessive
Bilirubin
UGT1A1
Mutation
Liver transplant
Online Access:http://link.springer.com/article/10.1186/s12876-020-01192-4

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http://link.springer.com/article/10.1186/s12876-020-01192-4

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