CBS deficiency | cblC deficiency | |||
---|---|---|---|---|
N = 5 | N = 6 | |||
100 mg/kg/d | 250 mg/kg/d | 100 mg/kg/d | 250 mg/kg/d | |
Plasma tHcy (µmol/L) | 45.7 [11.0; 87.6] | 24.7 [7.6; 104.8] | 94.6 [64.7; 102.2] | 75.0 [52.5; 104.7] |
Plasma Met (µmol/L) | 57.1 [38.3; 68.9] | 77.7 [59.7; 269.0] | 17.6 [9.7; 25.4] | 27.6 [15.7; 32.4] |
Plasma SAM (nmol/L) | 145.3 [106.3; 205.4] | 285.5 [217.2; 456.5] | 163.5 [58.6; 235.0] | 179.2 [109.9; 369.2] |
Plasma SAH (nmol/L) | 38.6 [26.2; 74.3] | 44.2 [34.7; 287.2] | 32.4 [20.5; 39.5] | 32.6 [21.8; 56.3] |
Plasma SAM/SAH (nmol/L) | 3.4 [2.5; 4.1] | 5.0 [1.6; 8.2] | 5.3 [2.9; 6.0] | 5.8 [3.2; 6.9] |
Plasma choline (µmol/L) | 9.6 [7.7; 14.1]0 | 11.3 [6.4; 12.9] | 11.5 [8.9; 15.8] | 10.6 [8.7; 18.5] |
Plasma ethanolamine (µmol/L) | 10.0 [5.2; 15.5] | 8.2 [5.8; 12.1] | 13.2 [6.0; 17.8] | 10.9 [5.1; 21.6] |
Plasma choline/ethanolamine | 1.1 [0.6; 1.9] | 1.4 [0.6; 2.0] | 0.9 [0.5; 2.6] | 0.8 [0.5; 3.6] |
Plasma creatine (µmol/L) | 22.8 [18.7; 34.2] | 20.8 [16.5; 38.6] | 62.6 [21.2; 96.2] | 27.0 [14.5; 65.6] |
Plasma GAA (µmol/l) | 2.1 [1.0; 2.6] | 2.2 [1.3; 2.5] | 1.5 [1.3; 2.2] | 1.4 [1.1; 2.2] |
Plasma creatine/GAA | 12.8 [7.3; 33.9] | 13.9 [6.7; 19.7] | 37.7 [ 9.6; 65.1] | 18.2 [6.5; 50.3] |
Plasma MMA (µmol/L) | 45.8 [16.2; 105.1] | 39.9 [12.4; 107.0] | ||
Plasma Betaine (µmol/L) | 137.5 [62.4; 260.1] | 405.4 [224.1; 635.4] | 264.9 [36.7; 983.3] | 941.9 [158.8; 1559.3] |
Plasma dimethylglycine (µmol/L) | 42.3 [29.0; 266.5] | 247.1 [123.3; 398.9] | 54.1 [7.8; 202.8] | 81.9 [42.2; 226.1] |
Plasma sarcosine (µmol/L) | 22.0 [19.0; 27.6] | 39.1 [34.2; 46.6] | 12.0 [2.8; 16.5] | 18.3 [8.9; 28.7] |
Urine tHcy (µmol/mmol creatinine) | 7.8 [1.2; 9.7] | 3.9 [0.5; 13.8] | 20.3 [13.8; 36.2] | 21.5 [11.6; 30.0] |
Urine Met (µmol/mmol creatinine) | 3.0 [1.9; 3.6] | 4.4 [1.8; 13.1] | 2.9 [0.8; 4.0] | 4.0 [3.1; 5.9] |
Urine creatine (µmol/mmol creatinine) | 19.0 [10.0; 69.0] | 17.0 [14.0; 65.0] | 299.5 [14.0; 599.0] | 24.0 [15.0; 705.0] |
Urine GAA (µmol/mmol creatinine) | 36.0 [21.0; 64.0] | 39.0 [30.0; 42.0] | 50.0 [34.0; 109.0] | 28.5 [15.0; 96.0] |
Urine creatine/GAA | 0.7 [0.2; 1.6] | 0.4 [0.4; 1.7] | 4.0 [0.4; 8.9] | 0.9 [0.5; 7.3] |
Urine MMA (µmol/mmol creatinine) | 287.0 [113.7; 1346.0] | 307.5 [142.5; 1174.0] |