Hepatic jaundice due to congenital enzyme defect

Some differential diagnoses and typical outline evidence

	Suggested by: jaundice. Normal looking stools and normal looking urine.
	Confirmed by: ↑serum bilirubin (unconjugated), but no (conjugated) bilirubin in urine. No urobilinogen in urine and normal haptoglobin. Normal liver function tests.

Some differential diagnoses and typical outline evidence

Gilbert's syndrome (Normal lifespan)	Suggested by: above evidence of impaired conjugation, asymptomatic.
	Confirmed by: demonstration of unconjugated hyperbilirubinaemia with normal LFT, no haemolysis. Rise in bilirubin when fasting and after nicotinic acid.
	Management: OHCM p724.
Crigler–Najjar syndrome (Type I: Severe, neonatal and often fatal Type II: Normal lifespan)	Suggested by: above evidence of impaired conjugation.
	Confirmed by: unconjugated hyperbilirubinaemia with otherwise normal LFT, no haemolysis. No rise in bilirubin when fasting or after nicotinic acid.
	Management: OHCM pp222, 720.