Table 1. Summary of clinical and laboratory findings in individuals harbouring mutations in NR1H4.

	Family 1		Family 2
	Patient 1	Patient 2	Patient 3	Patient 4
Sex	Female	Male	Female	Male
Age at onset	2 Weeks	2 Weeks	6 Weeks	Birth
Age at initial evaluation	20 Months	7 Weeks	6 Weeks	Birth
Age at liver transplant	22 Months	4.4 Months	NA	NA
Age at last evaluation	10 Years	15 Months	Died at 8 months	Died at 5 weeks
Symptoms	Jaundice, FTT	Jaundice, FTT	Jaundice	Hydrops, IVH

Liver biochemistry	Initial evaluation	Before OLT	Initial evaluation	Before OLT	Initial evaluation	Before death	Birth to death
Direct bilirubin (nl <0.4 mg dl−1)	11.5	14.1	11.8	16.5	9.2	15.7	0.2–13.5
AST (nl <80 U l−1)	231	182	392	316	293	116	83–341
ALT (nl <80 U l−1)	138	90	219	132	153	62	51–548
GGT (nl <2 years <100 U l−1; >2 years <60 U l−1)	53	41	45	44	59	38	(107*)
AFP (nl 8–468 ng ml−1)	716	NM	146,000	400,000	NM	139,000	NM
Coagulation parameters
PT (nl 10.3–13.4 s)	23.9	26	21.3	28.3	17.4	57.4	†
INR (nl 0.9–1.1)	2.0	2.2	2.0	2.8	1.4	7.4	2.05†
Factor V assay (79–127%)	31	NM	NM	NM	45	NM	NM
Factor VII assay (51–116%)	14	NM	NM	NM	32	NM	NM

AFP, alpha-fetoprotein; ALT, alanine aminotransferase; AST, aspartate aminotransferase; FTT, failure to thrive; GGT, gamma-glutamyl transferase activity; INR, international normalized ratio; IVH, intraventricular haemorrhage; NM, not measured; NA, not applicable; nl, normal; OLT, orthotopic liver transplant; PT, prothrombin time.

Patients 1 and 2 were from consanguineous parents, while patients 3 and 4 were not from consanguineous parents.

^*5-day-old sample—normal range for the GGT assay for patient 4 was 25–148 U l⁻¹.

^†The values obtained were not representative because of transfusions required for volume/losses and blood pressure support.