title: Fatal kernicterus in a girl deficient in glucose-6-phosphate dehydrogenase: a paradigm of synergistic heterozygosity.
abstract: A 6-day-old female newborn, readmitted for extreme hyperbilirubinemia with bilirubin encephalopathy, died despite 2 double-volume exchange transfusions. On autopsy examination the basal ganglia and hippocampus were selectively stained deep yellow. The infant was heterozygous for both the glucose-6-phosphate dehydrogenase Mediterranean mutation and for the (TA)(6)/(TA)(7) promoter polymorphism for the gene encoding the bilirubin conjugating enzyme uridine diphosphate-glucuronosyltransferase 1A1 (UGT1A1*28, associated with Gilbert syndrome). No additional mutations of the UGT1A1 were detected. Seemingly innocuous, heterozygotic mutations may interact synergistically to result in serious and even fatal outcomes.
authors.affiliation: Department of Neonatology, Barzilai Medical Center, Ashkelon, Israel.
authors.forename: Shmuel
authors.initials: S
authors.lastname: Zangen
authors.forename: Devorah
authors.initials: D
authors.lastname: Kidron
authors.forename: Terri
authors.initials: T
authors.lastname: Gelbart
authors.forename: Namita
authors.initials: N
authors.lastname: Roy-Chowdhury
authors.forename: Xia
authors.initials: X
authors.lastname: Wang
authors.forename: Michael
authors.initials: M
authors.lastname: Kaplan