Crigler-Najjar syndrome type II in a Chinese boy resulting from three mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene and a family genetic analysis.

Abstract excerpt

BACKGROUND: The UGT1A1 gene encodes a responsible enzyme, UDP-glucuronosyltransferase1A1 (UGT1A1), for bilirubin metabolism. Many mutations have already been identified in patients with inherited disorders with unconjugated hyperbilirubinemia, such as Crigler-Najjar syndromes and Gilbert's syndrome. CASE PRESENTATION: In this report, we presented a boy with intermittent unconjugated hyperbilirubinemia, whose...

Topics

Join the communities discussing this publication.

• Asian People
• China
• Crigler-Najjar Syndrome
• Glucuronosyltransferase
• Heterozygote