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Table 5 Magnetic resonance spectroscopy data of the brain in nonketotic hyperglycinemia patients

From: Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels

Age

Treatment

Glycine plasma

Glycine

Creatine

PhCholine

NAA

mI + Gly

Gly/Crea

Gly + mI/crea

Gly/crea

Days

Value (SD%)

Value (SD%)

Value (SD%)

Value (SD%)

Value (SD%)

Height ratio 35 ms

Height ratio 144 ms

Basal ganglia

Patient 1

 5

None

820

7.55 (9%)

7.87 (4%)

2.45 (5%)

5.42 (7%)

12.21 (14%)

0.96

0.86

0.76

 17

Benzoate

147

5.17 (16%)

8.31 (5%)

2.99 (6%)

6.96 (7%)

12.23 (20%)

0.62

0.61

0.55

 181

Benzoate

352

5.02 (12%)

12.04 (4%)

3.63 (5%)

11.72 (4%)

5.02 (12%)

0.42

0.34

0.27

 230

KD + LDB

237

5.64 (12%)

11.48 (4%)

3.17 (5%)

11.32 (5%)

5.64 (12%)

0.48

0.39

0.33

 413

KD + LDB

231

NA

NA

NA

NA

NA

0.25

0.36

0.27

Patient 2

 4

None

2108

NA

NA

NA

NA

NA

NA

0.87

0.98

 18

Benzoate

403

8.04 (7%)

9.85 (4%)

1.72 (5%)

5.81 (6%)

8.04 (7%)

0.82

0.65

0.59

 36

KD + LDB

263

8.23 (10%)

7.91 (6%)

2.78 (7%)

5.62 (9%)

9.60 (25%)

1.04

0.77

0.69

Patient 3

 52

Benzoate

281

NA

NA

NA

NA

NA

NA

0.21

NA

 498

KD + LDB

190

NA

NA

NA

NA

NA

NA

0.16

NA

*Control neonates (N = 9)

AVG range*

N/A

 

1.23 (0.0–3.10)

7.18 (3.77–11.4)

3.32 (2.25–4.42)

5.29 (3.46–7.83)

6.84 (4.31–9.81)

0.18 (0.0–0.31)

0.47 (0.36–0.59)

0.31 (0.21–0.38)

White matter

Patient 1

 5

None

860

2.95 (18%)

3.22 (7%)

1.73 (5%)

2.54 (10%)

8.72 (17%)

0.91

NA

0.91

 17

Benzoate

147

1.63 (64%)

5.00 (10%)

2.50 (8%)

4.60 (13%)

8.18 (35%)

0.33

NA

0.45

 181

Benzoate

352

2.89 (22%)

7.46 (5%)

2.65 (5%

8.91 (4%)

4.49 (43%)

0.39

NA

0.28

 230

KD + LDB

237

3.02 (15%)

6.84 (5%)

2.47 (5%)

8.46 (4%)

3.02 (15%)

0.44

NA

0.31

 413

KD + LDB

231

NA

NA

NA

NA

NA

0.49

NA

0.37

Patient 2

 4

None

2108

NA

NA

NA

NA

NA

NA

 

1.26

 18

Benzoate

403

1.14 (45%)

3.51 (7%)

1.72 (5%)

2.65 (9%)

8.12 (17%)

0.23

NA

0.59

 36

KD + LDB

263

3.16 (17%)

3.10 (10%)

1.44 (8%)

2.96 (12%)

3.16 (17%)

1.02

NA

0.77

  1. Magnetic resonance spectroscopy data of the brain obtained at obtained at TR 2000, TE 144 ms in patients with NKH with a voxel in the medial globus pallidus and in the frontal subcortical white matter. Values shown are the metabolite levels obtained from LCModel with the % standard deviation of the measurements. Control data on neonatal brain MRS glycine levels were extracted using identical processing from MRS data obtained over the basal ganglia of neonates imaged for possible hypoxic-ischemic injury, but who were later determined to have normal imaging and MRS findings. Therefore, only basal ganglia reference ranges are available
  2. Gly, glycine; Crea, creatine; mI, myoinositol; PhCholine, choline and phosphocholine; NAA, N-acetylaspartate; KD, ketogenic diet; benzoate, high dose benzoate; LDB, low dose benzoate, for dosing see Table 1; SD, standard deviation; NA, not assessed