∆4-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid

Table 4 Serum liver tests before and after cholic acid therapy in 16 children with ∆⁴-3-oxo-R deficiency

Patient	At UDCA initiation				At CA initiation				At last follow-up
Patient	ALT (IU/L)	γGT (IU/L)	Total/direct bilirubin (µmol/L)	Bile acid (µmol/L)	ALT (IU/L)	γGT (IU/L)	Total/direct bilirubin (µmol/L)	Bile acid (µmol/L)	ALT (IU/L)	γGT (IU/L)	Total bilirubin (µmol/L)	Bile acid^b (µmol/L)
A1	1540	48	313/217	7	284	138	51/41	39	11	13	4	5
A2	1110	48	314/224	2	144	48	304/206	130	35	30	7	12
B1	840	32	186/159	9	146	33	15	42	13	15	4	4
C1	391	53	57/53	6	45	13	4	30	10	8	4	11
D1	47	9	19/–	6	13	9	7/3	27	24	17	7	1
D2^a	NA	NA	NA	NA	22	9	4	1	16	13	6	1
E1	656	31	231/204	–	26	16	5	26	18	21	10	–
F1	468	45	149/125	–	1563	54	289/201	180	33	8	3	9
F2	218	45	121/99	–	25	7	4	6	14	10	0	–
G1	791	48	247/212	–	997	106	259/225	56	29	16	5	11
H1	389	33	56/44	8	42	9	5/2	–	15	10	8	–
I1	346	17	96/57	5	582	18	68/43	–	16	12	6	–
J1	464	93	196/184	–	280	140	43/34	–	13	13	8	3
K1	366	56	87/78	–	26	16	7	–	21	20	4	5
L1	225	29	78/65	–	328	37	83/61	5	19	11	4	19
M1	627	31	176/130	–	1509	48	380/296	–	18	13	5	–
N	< 50	< 50	< 17/ < 4	< 10	< 50	< 50	< 17/ < 4	< 10	< 50	< 50	< 17/ < 4	< 10

^aPatient D2 did not receive oral UDCA therapy
^bNot performed in fasting. – indicates missing value. ALT alanine aminotransferase, CA cholic acid, γGT γ-glutamyltransferase, N normal range, NA not applicable, UDCA ursodeoxycholic acid

ISSN: 1750-1172