Basis: complete absence of hepatic UDP-glucuronosyl transferase activity
Inheritance: autosomal recessive. Parents are usually not affected but siblings and other close relatives may be affected.
Clinical features:
(1) severe unconjugated hyperbilirubinemia appearing soon after birth
(2) recurrent episodes of kernicterus throughout life
(3) absence of conjugated bilirubin despite very high levels of unconjugated bilirubin
(4) no change in unconjugated bilirubin levels after Phenobarbital therapy
A liver biopsy may show intrahepatic cholestasis or appear normal.
Exclusions:
(1) no evidence of hemolytic anemia
(2) no abnormality in the biliary tract
(3) normal liver enzymes
Management may include:
(1) regular phototherapy
(2) plasmapheresis during acute exacerbations
(3) liver transplantation in severe cases
