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

Resource
Neonatology, 109(3), 235-238
Journal
Neonatology
Journal Volume
109
Journal Issue
3
Pages
235-238
Date Issued
2016
Date
2016
Author(s)
Mu, Shu-Chi
Chen, Yi-Ling
Tsai, Li-Yi
Shih, Yung-Luen
Chen, En-Sung
Huang, Ching-Shan
DOI
10.1159/000443365
URI
http://ntur.lib.ntu.edu.tw//handle/246246/281229
Abstract
The total bilirubin value of a male infant was 385 mu mol/l on day 5. Liver function test results were normal and there was no evidence of sepsis and no hemolysis reaction. Phototherapy was administered and on day 8 the patient's total bilirubin level was 255 mu mol/l. Intermittent episodes of hyperbilirubinemia occurred without phototherapy, with the total bilirubin level reaching 335 mu mol/l on day 19. A 3-day regimen of phenobarbital was administered and on day 24 his total bilirubin level was 180 mu mol/l. The patient was discharged. At the age of 2 months, the total bilirubin value was 27 mu mol/l. His direct bilirubin value was <15% of total bilirubin in every determination. A family study of the UDP-glucuronosyltransferase (UGT) 1A1 gene showed that the infant carries a homozygous mutation at nucleotide -3279 plus compound heterozygous mutations at nucleotides 782 and 1091. The mutation at nucleotide 782 is a novel finding. Gilbert's syndrome was diagnosed. (C) 2016 S. Karger AG, Basel
Subjects
Gilbert's syndrome
Hyperbilirubinemia
Mutation
Neonate
SDGs

[SDGs]SDG3

Other Subjects
alanine; bilirubin; bilirubin glucuronide; glucuronosyltransferase 1A1; organic anion transporter 2; phenobarbital; proline; glucuronosyltransferase; UGT1A1 enzyme; allele; Apgar score; Article; bilirubin blood level; birth weight; case report; gene mutation; Gilbert disease; human; infant; male; neonatal hyperbilirubinemia; newborn intensive care; phototherapy; priority journal; respiratory distress; restriction fragment length polymorphism; genetics; hyperbilirubinemia; molecular genetics; mutation; newborn; nucleotide sequence; Base Sequence; Glucuronosyltransferase; Humans; Hyperbilirubinemia; Infant, Newborn; Male; Molecular Sequence Data; Mutation

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