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.

Table 2 Gamma-glutamyl transpeptidase level in arthrogryposis, renal dysfunction and cholestasis patients previously reported

Ref.	GGT level
Di Rocco et al[10] (1995)	Normal (3 patients)
Franceschini et al[11] (1997)	Normal (3 patients)
Papadia et al[12] (1996)	Normal (1 patient)
Coleman et al[13] (1997)	Normal (2 patients, 60-70 U/L)
Abdullah et al[14] (2000)	Normal (3 patients)
Denecke et al[15] (2000)	Normal (2 patients), mildly elevated (1 patient 78 U/L)
Eastham et al[16] (2001)	Normal (4 patients)
Howells et al[17] (2002)	Normal (1 patient)
Gissen et al[2] (2004)	Normal (29 patients)
Abu-Sa'Da et al[18] (2005)	Normal (2 patients)
Choi et al[19] (2005)	Normal (1 patient)
Tekin et al[20] (2005)	Normal (2 patients)
Bull et al[21] (2006)	Normal (1 patient)
Gissen et al[3] (2006)	Normal (9 patients)
Taha et al[22] (2007)	Normal (1 patient)
Hershkovitz et al[23] (2008)	Normal (2 patients, 35-83 U/L)
Arhan et al[24] (2009)	Normal (1 patient)
Jang et al[8] (2009)	Normal (6 patients)
Kim et al[25] (2010)	Normal (10 patients)

GGT: Gamma-glutamyl transpeptidase.