Article
[Inherited disorders of bilirubin metabolism].
Minerva pediatrica - 1 Apr 2005
Rossi F, Francese M, Iodice R M, Falcone E, Vetrella S, Punzo F, De Vita S, Perrotta S
Abstract excerpt
Jaundice in an infant or older child may reflect accumulation of either unconjugated or conjugated bilirubin and could be related to inherited bilirubin disorders. Three grades of inherited unconjugated hyperbilirubinemia are recognised in humans. This spectrum of disorders is distinguished primarily on the basis of the plasma bilirubin level, the response to phenobarbital administration, and the presence or...
Topics
- Bilirubin
- Crigler-Najjar Syndrome
- Genotype
- Gilbert Disease
- Glucuronosyltransferase
- Humans
- Hyperbilirubinemia, Hereditary
- Point Mutation