title: 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: Ankara University School of Medicine Children's Hospital, Department of Pediatrics, Division of Neonatology, Ankara, Turkey. doktorduranyildiz@hotmail.com
authors: D
authors: D
authors: Yildiz
authors: Ankara University School of Medicine Children's Hospital, Department of Pediatrics, Division of Neonatology, Ankara, Turkey.
authors: S
authors: S
authors: Alan
authors: Ankara University School of Medicine Children's Hospital, Department of Pediatrics, Division of Neonatology, Ankara, Turkey.
authors: A
authors: A
authors: Kilic
authors: Division of Pediatric Gastroenterology, Ankara, Turkey.
authors: A
authors: A
authors: Yaman
authors: Ankara University School of Medicine Children's Hospital, Department of Pediatrics, Division of Neonatology, Ankara, Turkey.
authors: O
authors: O
authors: Erdeve
authors: Division of Pediatric Gastroenterology, Ankara, Turkey.
authors: Z
authors: Z
authors: Kuloglu
authors: Ankara University School of Medicine Children's Hospital, Department of Pediatrics, Division of Neonatology, Ankara, Turkey.
authors: B
authors: B
authors: Atasay
authors: Ankara University School of Medicine Children's Hospital, Department of Pediatrics, Division of Neonatology, Ankara, Turkey.
authors: S
authors: S
authors: Arsan
mesh_terms: D003241:Consanguinity; D003414:Crigler-Najjar Syndrome / Q000235:genetics* / Q000628:therapy; D005260:Female; D020022:Genetic Predisposition to Disease; D005878:Gilbert Disease / Q000235:genetics* / Q000628:therapy; D014453:Glucuronosyltransferase / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D010789:Phototherapy / Q000379:methods; D014421:Turkey; D000099148:UGT1A1 Enzyme
chemical_list: D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme