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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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