Age (y) | Dose (mg/kg) | Cmax (µmol/L) | AUC (µmol h/L) | t1/2,elim (h) | CL/F (L/h kg−1) | V/F (L/h kg−1) | ||
---|---|---|---|---|---|---|---|---|
CBS deficiency | ||||||||
Matthews et al. [23] | n = 6 | 100 | na | na | 11.8 [8.0 – 26.3]a | 0.174 [0.054 – 0.210]a | na | |
Current study | n = 5 | 13.3 [6.8–14.4]a | 100 | 849 [681–1048]a | 5522 [4909; 9317]c | 16.7 [13.8–20.3]a | 0.15 [0.09–0.17]a | 1.45 [1.2–1.98]a |
250 | 2074 [1001–2563]a | 13,276 [6454; 14907]c | 12.3 [10.0–16.3]a | 0.16 [0.14–0.33]a | 1.29 [1.15–3.41]a | |||
cblC/MTHFR deficiency | ||||||||
Schwahn et al. [18] | n = 1 | 5.8 | 50 | 506 | 1450 | 6.63 | 0.297 | 1.726 |
n = 1 | 10.2 | 50 | 556 | 4230 | 23.2 | 0.102 | 1.907 | |
Current study | n = 6 | 5.4 [1.5–17.8]a | 100 | 717 [585–1000]a | 7485 [4843; 11907]a | 18.3 [10.9–24.2]a | 0.11 [0.07–0.18]a | 1.56 [1.04–1.86]a |
250 | 1136 [827–2356]a | 10,389 [7826; 29243]a | 18.4 [9.43–25.9]a | 0.21 [0.07–0.27]a | 2.34 [1.15–3.49]a |