This rare inherited disorder is caused by deficiency of the enzyme glucuronyl transferase.
Patients with autosomal recessive type I (complete) disease have severe hyperbilirubinemia. They usually die of kernicterus by age 1 yr but may survive into adulthood. Treatment may include phototherapy and liver transplantation.
Patients with autosomal dominant type II (partial) disease (which has variable penetrance) often have less severe hyperbilirubinemia (< 20 mg/dL [< 342 μmol/L]) and usually live into adulthood without neurologic damage. Phenobarbital 1.5 to 2 mg/kg po tid, which induces the partially deficient glucuronyl transferase, may be effective.
Drug NameSelect Trade
PhenobarbitalNo US brand name