Fatal Kernicterus in a Girl Deficient in Glucose-6-Phosphate Dehydrogenase: A Paradigm of Synergistic Heterozygosity

Shmuel Zangen, Devorah Kidron, Terri Gelbart, Namita Roy-Chowdhury, Xia Wang, Michael Kaplan

Research output: Contribution to journalArticle

25 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)616-619
Number of pages4
JournalJournal of Pediatrics
Volume154
Issue number4
DOIs
StatePublished - Apr 1 2009

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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