Gilbert or Crigler–Najjar syndrome? Neonatal severe unconjugated hyperbilirubinemia with P364L UGT1A1 homozygosity

Gilbert or Crigler–Najjar syndrome? Neonatal severe unconjugated hyperbilirubinemia with P364L UGT1A1 homozygosity

Abstract Background Several mutations of bilirubin uridine diphosphate-glucuronosyltransferase gene (UGT1A1) have been reported in patients with unconjugated hyperbilirubinemia. Few reports are available about the p.Pro364Leu mutation (P364L, c.1091C > T) in homozygous newborns. We describe the c...

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Bibliographic Details
Main Authors: Laura Cozzi, Federica Nuti, Irene Degrassi, Daniela Civeriati, Giulia Paolella, Gabriella Nebbia
Format: Article
Language:English
Published: BMC 2022-04-01
Series:Italian Journal of Pediatrics
Subjects:
p.Pro364Leu
UGT1A1
Neonatal severe unconjugated hyperbilirubinemia
Gilbert syndrome
Crigler-Najjar syndrome
Case report
Online Access:https://doi.org/10.1186/s13052-022-01251-4

Internet

https://doi.org/10.1186/s13052-022-01251-4

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