Table 2:
Laboratory and MRS measurements of the patients and of the control subjects
| Patients | Cr per Os (mg/kg/bw/day) | Plasmatic Cr (μmol/L) | Plasmatic GAA (μmol/L) | Brain Cr (mmol/L) | PCr/PDE | Pi/PDE | ATP/PDE | pH |
|---|---|---|---|---|---|---|---|---|
| GAMT-d | ||||||||
| Patient 1 | 800 | 487 | 11.4 | 3.86 | 1.03 | 0.76 | 0.58 | 7.22 |
| 400* | 598 | 11.1 | 3.10 | 0.91 | 0.75 | 0.59 | 6.85 | |
| 400** | 512 | 7.9 | 3.31 | 1.19 | 0.70 | 0.65 | 7.43 | |
| Patient 2 | 0 | 24 | 40.3 | 0.93 | 0.37† | 0.72 | 0.80 | 7.08 |
| 400** | 431 | 7.4 | 3.76 | 1.02 | 0.78 | 0.57 | 6.75 | |
| AGAT-d | ||||||||
| Patient 3 | 0 | 6 | 1.10 | 0.73 | 0.84 | 0.63 | 7.31 | |
| 400 | 776 | 3.87 | 1.24 | 0.85 | 0.61 | 7.21 | ||
| 200 | 203 | 3.65 | 1.19 | 0.82 | 0.70 | 7.20 | ||
| Patient 4 | 0 | 6 | 1.05 | 0.76 | 0.87 | 0.64 | 7.31 | |
| 400 | 588 | 4.00 | 1.49 | 0.90 | 0.65 | 7.17 | ||
| 200 | 178 | 3.85 | 1.15 | 0.81 | 0.77 | 7.36 | ||
| Patient 5 | 0 | 8 | 1.33 | 0.76 | 0.87 | 0.64 | 7.22 | |
| 400 | 283 | 3.99 | 1.32 | 0.87 | 0.64 | 7.04 | ||
| 200 | 93 | 3.52 | 0.83 | 0.76 | 0.62 | 7.54 | ||
| 300 | 246 | 3.61 | 0.93 | 0.77 | 0.54 | 7.22 | ||
| Reference values | n.v. ± SD | 64 ± 14 | 1.48 ± 0.51 | 4.37 ± 0.44 | 1.40 ± 0.14 | 0.87 ± 0.08 | 0.64 ± 0.06 | 7.15 ± 0.12 |
Note:—Os indicates oral intake; Cr, creatine; bw, body weight; GAA, guanidinoacetate; PCr, phosphocreatine; PDE, phosphodiester; Pi, inorganic phosphate; GAMT-d indicates guanidinoacetate methyltransferase defect; AGAT-d, arginine:glycine amidinotransferase defect; n.v., normal value.
*
Coupled with ornithine supplementation.
**
Coupled with ornithine supplementation and arginine restriction.
†
Resonance frequency of this signal was at −0.5 ppm and was assigned to GAA-P.