The Genetics of Glucose-6-Phosphate-Dehydrogenase (G6PD) and Uridine Diphosphate Glucuronosyl Transferase 1A1 (UGT1A1) Promoter Gene Polymorphism in Relation to Quantitative Biochemical G6PD Activity Measurement and Neonatal Hyperbilirubinemia.
G6PD deficiency
G6PD enzyme activity
Mediterranean mutation
UGT1A1 promoter polymorphism
genotype
glucose-6-phosphate dehydrogenase (G6PD)
neonatal hyperbilirubinemia (NHB)
number of TA repeats
phenotype
uridine diphosphate glucuronosyl transferase 1A1 (UGT1A1)
Journal
Children (Basel, Switzerland)
ISSN: 2227-9067
Titre abrégé: Children (Basel)
Pays: Switzerland
ID NLM: 101648936
Informations de publication
Date de publication:
06 Jul 2023
06 Jul 2023
Historique:
received:
14
06
2023
revised:
03
07
2023
accepted:
04
07
2023
medline:
29
7
2023
pubmed:
29
7
2023
entrez:
29
7
2023
Statut:
epublish
Résumé
Glucose-6-phosphate dehydrogenase (G6PD) deficiency and polymorphism in uridine diphosphate glucuronosyl transferase 1A1 (UGT1A1) were associated with significant neonatal hyperbilirubinemia (NHB) and increased risk for kernicterus. However, quantitative screening tests for G6PD enzyme activity proved unsatisfactory in estimating the risk for significant NHB, especially in heterozygous females that could present phenotype overlap between normal homozygotes, heterozygotes, and deficient homozygotes, resulting in a continuum of intermediate G6PD activity. To examine the association of genotype and phenotype in newborns with decreased G6PD activity and its relation to NHB. Quantitative G6PD enzyme activities were measured on umbilical cord blood samples. After accepting parental consent, samples were analyzed for 28 females and 27 males were studied. The The results of this study highlight the possibility for future implementation of molecular genetic screening to identify infants at risk for significant NHB, especially
Identifiants
pubmed: 37508669
pii: children10071172
doi: 10.3390/children10071172
pmc: PMC10378156
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : Technion - Israel Institute of Technology
ID : ALBERT GOODSTEIN RESEARCH FUND grant number 2025088
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