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Prolonged Hyperbilirubinemia in a Neonate with a Novel Mutation in the UDP-glucuronosyltransferase 1A1 Gene

Shu-Chi Mu1, Yi-Ling Chen, Li-Yi Tsai

  • 1Department of Pediatrics, Shin Kong Wu Ho-Su Memorial Hospital and School of Medicine, Fu-Jen Catholic University, Taipei, Taiwan, ROC.

Neonatology
|February 10, 2016
PubMed

Insights

This study details a male infant diagnosed with Gilbert's syndrome due to novel UDP-glucuronosyltransferase (UGT)1A1 gene mutations. Treatment with phototherapy and phenobarbital effectively managed hyperbilirubinemia.

Area of Science:

  • Pediatrics
  • Medical Genetics
  • Biochemistry

Background:

  • Neonatal hyperbilirubinemia is common, but persistent cases require etiological investigation.
  • Elevated total bilirubin levels in infants can indicate underlying genetic or metabolic disorders.
  • UDP-glucuronosyltransferase 1A1 (UGT1A1) gene variations are known causes of unconjugated hyperbilirubinemia.

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