Crigler-Najjar syndrome type I in a Turkish newborn caused by a novel mutation and Gilbert type genetic defect.

Abstract

Crigler-Najjar syndrome (CNS), caused by deficiency of bilirubin uridine diphosphate glucuronosyltransferase (UGT) 1A1, is a rare and autosomal recessive inherited disorder characterized by severe unconjugated nonhemolytic hyperbilirubinemia since birth. We present a girl with CNS type I caused by a novel mutation and Gilbert type genetic defect. Gilbert's Syndrome (GS) and CNS type I both involve abnormalities in bilirubin conjugation secondary to deficiency of bilirubin UGT. The combined defects even in benign genetic forms were shown to cause more serious clinical disease. The patient has been treated with daily home-based phototherapy for more than nine months and considered as a candidate for liver transplantation.

• Authors: D Yildiz, S Alan, A Kilic, A Yaman, O Erdeve, Z Kuloglu, B Atasay, S Arsan
• Journal: Genetic counseling (Geneva, Switzerland) (Genet Couns) Vol. 24 Issue 3 Pg. 273-7 ( 2013) ISSN: 1015-8146 [Print] Switzerland
• PMID: 24341141 (Publication Type: Case Reports, Journal Article)

Chemical References

• UGT1A1 enzyme
• Glucuronosyltransferase

Topics

• Consanguinity
• Crigler-Najjar Syndrome (genetics, therapy)
• Female
• Genetic Predisposition to Disease
• Gilbert Disease (genetics, therapy)
• Glucuronosyltransferase (genetics)
• Humans
• Infant, Newborn
• Mutation
• Phototherapy (methods)
• Turkey