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.

ABSTRACT: 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.

Objective

To examine the association of genotype and phenotype in newborns with decreased G6PD activity and its relation to NHB.

Study design

Quantitative G6PD enzyme activities were measured on umbilical cord blood samples. A

SUBMITTER: Riskin A 

PROVIDER: S-EPMC10378156 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature