Gilbert syndrome is the mild form of hereditary unconjugated hyperbilirubinemia. It is caused by mutations in the bilirubin UDP-glucuronosyltransferase gene (UGT1A1), which is essential for biliary excretion of bilirubin.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C58 Inborn errors of porphyrin or heme metabolism
H02055 Gilbert syndrome
Maruo Y, Poon KK, Ito M, Iwai M, Takahashi H, Mori A, Sato H, Takeuchi Y
Title
Co-occurrence of three different mutations in the bilirubin UDP-glucuronosyltransferase gene in a Chinese family with Crigler-Najjar syndrome type I and Gilbert's syndrome.