Δ4-3-oxosteroid-5β-reductase deficiency: Responses to oral bile acid therapy and long-term outcomes

Table 1 Clinical and laboratory¹ features of the 12 patients diagnosed with Δ4-3-oxosteroid 5β-reductase deficiency at first presentation

Patient No.	Sex	Age at first symptom	Age at first visit (mo)	TB (μmol/L)	DB (μmol/L)	ALT (U/L)	AST (U/L)	GGT (U/L)	TBA (μmol/L)	Organomegaly	INR2	Molecular defect3
1	F	14 d	2.5	292	214	169	309	46	4.6	Hepatomegaly	1.23	c.933delG/c.1023+5A>C
2	M	1 mo	11	146	108	101	405	40	1.6	Hepatosplenomegaly	1.17	c.158A>G/ c.158A>G
3	M	3 d	2	96	64	176	183	33	3	Hepatomegaly	1.03	c.396C>A/c.722A>T
4	M	3 d	1	310	218	76	213	51	5.5	Hepatomegaly	1.52	c.919G>T/c.919G>T
5	M	10 d	10	146	113	210	207	65	6.1	Hepatosplenomegaly	1.14	c.797G>A/-
6	F	1 mo	8	324	252	267	584	108	1.4	Hepatomegaly	2.17	c.148C>T/-
7	M	1 mo	8	211	126	234	734	66	7.9	Hepatomegaly	1.1	c.797G>A/C.797G>A
8	M	3 d	1	320	158	523	703	51	2.5	Hepatomegaly	1.36	c.797G>A/C.797G>A
9	F	10 d	1	378	232	1317	1416	62	8.5	Hepatomegaly	1.9	c.614delT/C.797G>A
10	M	3 d	2	160	126	531	896	64	5.9	Hepatosplenomegaly	1.28	c.593C>T/c.797G>A
11	M	3 d	3	125	76	79	161	38	1.4	Hepatomegaly	1.02	c.278delA/-
12	M	1 mo	2.5	204	112	339	619	50	1.8	Hepatomegaly	2.11	c.919C>T/C.919C>T
Normal range				5-21	0-3.4	0-40	0-40	7-50	0-10		0.8-1.2

¹At least 5 d after cessation of bile acid administration;

²After vitamin K1 parenteral administration;

³NM_005989 was used as reference. TB: Total bilirubin; DB: Direct bilirubin; ALT: Alanine aminotransferase; AST: Aspartate transferase; GLT: Gamma-glutanyl transferase; ALB: Albumin.