Table 2 First symptoms and cholic acid therapy data in 16 children with ∆4-3-oxo-R deficiency
From: ∆4-3-oxo-5β-reductase deficiency: favorable outcome in 16 patients treated with cholic acid
Patient | Age at first symptoms (months) | First symptoms | Age at CA initiation (months) | Age at last FU (years) | Daily dose of CA at last FU | |
|---|---|---|---|---|---|---|
mg/kg | mg | |||||
A1 | 1 | Jaundice | 9 | 25.0 | 7.9 | 450 |
A2 | 1 | Jaundice | 9 | 25.0 | 8.3 | 450a |
B1 | 4.8 | Jaundice Cerebral hemorrhage | 7.4 | 3.6 | 9.4 | 150 |
C1 | 2 | Jaundice | 5.3 | 10.0 | 9.0 | 250 |
D1 | 3 | Cerebral hemorrhage | 4.5 | 2.6 | 12.0 | 150 |
D2 | None (family screening) | 68 | 6.7 | 4.0 | 100 | |
E1 | 1 | Jaundice | 159 | 16.9 | 4.1 | 400 |
F1 | 2 | Jaundice | 6 | 5.3 | 7.4 | 200 |
F2 | 2 | Jaundice | 31 | 5.3 | 7.9 | 200 |
G1 | 1 | Jaundice | 3.1 | 5.4 | 14.2 | 350 |
H1 | 2 | Jaundice | 5 | 4.9 | 10.0 | 150 |
I1 | 4 | Jaundice, bleeding | 7 | 5.0 | 8.3 | 135 |
J1 | 1 | Jaundice | 38 | 13.8 | 4.3 | 250 |
K1 | 2.5 | Jaundice | 25 | 4.4 | 7.3 | 150 |
L1 | 4 | Jaundice | 5 | 4.3 | 13.1 | 200 |
M1 | 5 | Jaundice | 9 | 6.6 | 8.4 | 250 |
Median | 2 | 8.1 | 5.4 | 8.3 | 200 | |