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Table 2 Metabolites concentrations of other 1-C metabolism (secondary endpoints) after 1 month of betaine treatment (100 mg/kg/day vs. 250 mg/kg/day)

From: Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial

 

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]

  1. Data are presented as mediane [min; max]