Patients usually are anicteric, with normal life expectancy. Hemolysis and mild icterus usually occurs at times of stress, starvation, and infection. The disease process appears at birth. Because the population affected by this disease overwhelmingly consists of infants, no clinical symptoms are reported. Patients may present with evidence of kernicterus.
Physical examination is normal, except for jaundice.
All of the diseases of impaired conjugation of bilirubin are inherited syndromes caused by abnormalities in the level of the enzyme bilirubin-UGT activity. All patients with impaired bilirubin conjugation have an elevated total serum bilirubin level. The therapeutic goal is to produce a sustained reduction in plasma bilirubin concentration. Many different therapies have been tried in experimental protocols. Performance of liver transplantation should occur prior to the onset of kernicterus.