Congenital disorders in bilirubin metabolism
  1. Gilbert's Syndrome

    • Partial block in bilirubin conjugation
    • Benign elevation in total and unconjugated bilirubin

  2. Criglar-Najjar Syndrome, Type I

    • Absence of bilirubin conjugation enzyme
    • Marked unconjugated hyperbilirubinemia & jaundice
    • May cause death in infancy

  3. Criglar-Najjar Syndrome, Type II (Arias Syndrome)

    • Defect uncertain
    • Moderate hyperbilirubinemia
    • Bilirubin decreasese with phenobarbital treatment, which increases the amount and activity ("induces") the conjugating enzymes in hepatocytes

  4. Dubin-Johnson Syndrome

    • Defect in transport of bilirubin into bile
    • Mild conjugated and unconjugated hyperbilirubinemia; conjugated predominates
    • Jaundice may be precipitated by other illnesses
    • Urinary coproporphyrin I is elevated

  5. Rotor Syndrome

    • Defect in transport of bilirubin into bile
    • Mild conjugated hyperbilirubinemia
    • Jaundice may be precipitated by other illnesses
    • Serum bile acid levels are increased

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