ARC syndrome with high GGT cholestasis caused by VPS33B mutations

Table 1 Biochemistry of the proband and her past elder sister at different age of days

Age (d)	TBIL	DBIL	ALT	AST	ALP	GGT	TBA	TP	ALB
	(mmol/L)	(mmol/L)	(U/L)	(U/L)	(U/L)	(U/L)	(mmol/L)	(g/L)	(g/L)
The proband
17	80.5	28.1	12	22	694	216	27.2	50.3	31.2
21	55.9	27.5	13	22	486	150	34.2	49.0	24.0
26	107.5	36.5	40	29	558	202	90.7	NA	NA
The past elder sister
30	263.4	122	22	NA	576	48	NA	48.9	29.0
32	334.7	210.5	16	30	454	43	NA	46.4	30.2
34	271.3	162.9	17	40	419	37	NA	57.1	31.5
Reference range	5-21	0-6	0-40	0-40	0-500	3-50	0-10	60-85	35-55

TBIL: Total bilirubin; DBIL: Direct bilirubin; ALT: Alanine aminotransferase; AST: Aspartate aminotransferase; ALP: Alkaline phosphates; GGT: Gamma-glutamyl-transpeptidase; TBA: Total bile acid; TP: Total protein; ALB: Albumin.