[Congenital diseases of bilirubin metabolism].
The metabolism of bilirubin is a complicated process. Recently the genetic background of the conjugation of bilirubin is uncovered but the mechanism of bilirubin excretion in the liver and gut, and its toxic effects in the brain are largely unknown. The congenital defects in the bilirubin metabolism exists of four rare and one common disease. The clinical implications of these diseases vary but some are of great impact for the patient. The chronic character of these diseases requires an accurate management. It is to be expected that in the future new therapeutic strategies will be developed.
Sinaasappel
M
M
Afd. Kindergeneeskunde, Sophia Kinderziekenhuis, Rotterdam.
D000293:Adolescent; D001663:Bilirubin / Q000378:metabolism*; D001692:Biological Transport; D002648:Child; D002675:Child, Preschool; D003414:Crigler-Najjar Syndrome / Q000378:metabolism; D005878:Gilbert Disease / Q000378:metabolism; D006801:Humans; D006933:Hyperbilirubinemia, Hereditary / Q000378:metabolism; D007223:Infant; D007566:Jaundice, Chronic Idiopathic / Q000378:metabolism; D008661:Metabolism, Inborn Errors / Q000378:metabolism*
D001663:Bilirubin
Aangeboren ziekten van de bilirubinestofwisseling.