Table 2.
Plasma and urinary creatine and guanidinoacetate levels of family members
| Individual | MCT12 Mutation | SGLT2 Mutation | Age (Years) | Plasma | 24-Hour Urine | ||
|---|---|---|---|---|---|---|---|
| Creatine | Guanidinoacetate | Creatine | Guanidinoacetate | ||||
| II-1 | yes | yes | 70.3 | 26.1 | 2.02 | 252 | 167 |
| II-3 | yes | yes | 65.3 | 41.4 | 3.23 | 1512 | 656 |
| II-7 | yes | yes | 61.8 | 23.3 | 0.72 | 359 | 312 |
| III-4 | yes | yes | 40.2 | 39.6 | 2.21 | 300 | 342 |
| III-7 | yes | yes | 27.1 | 28.6 | 1.97 | 597 | 573 |
| II-5 | yes | no | 55.3 | 27.7 | 2.04 | 421 | 474 |
| II-9 | yes | no | 69.4 | 48.0 | 2.10 | 480 | 242 |
| III-1 | yes | no | 44.8 | 43.3 | 1.62 | 430 | 100 |
| III-2 | yes | no | 43.3 | 31.4 | 0.67 | 576 | 1256 |
| III-5 | yes | no | 22.4 | 29.0 | 2.40 | 926 | 710 |
| III-8 | yes | no | 35.6 | 24.0 | 2.20 | 428 | 531 |
| II-2 | no | no | 68.6 | 51.0 | 3.50 | 371 | 226 |
| II-4 | no | no | 74.4 | 57.0 | 3.70 | 380 | 222 |
| II-8 | no | no | 64.7 | 9.6 | 2.18 | 205 | 244 |
| II-10 | no | no | 70.4 | 47.0 | 3.70 | 583 | 368 |
| II-11 | no | no | 53.7 | 44.0 | 2.40 | 343 | 354 |
| III-6 | no | no | 30.5 | 26.0 | 2.40 | 229 | 186 |
| III-10 | no | no | 38.7 | 34.0 | 3.20 | 297 | 630 |
| III-11 | no | no | 39.5 | 26.2 | 3.51 | 324 | 556 |
| III-12 | no | no | 22.6 | 23.0 | 2.10 | 261 | 91 |
| III-13 | no | no | 25.8 | ND | ND | 932 | 661 |
| MCT12 mutation yes, median (IQR) | 44.8 (37.9–63.6) | 29.0 (26.9–40.5) | 2.04 (1.80–2.21) | 430 (390–586) | 474 (277–614) | ||
| MCT12 mutation no, median (IQR) | 46.6 (32.5–67.6) | 34.0 (26.0–47.0) | 3.20 (2.40–3.50) | 333 (270–378) | 299 (223–509) | ||
| Mann–Whitney U test, P value | 1 | 0.77 | <0.01 | 0.09 | 0.43 | ||
| SGLT2 mutation yes, median (IQR) | 61.8 (40.2–65.3) | 28.6 (26.1–39.6) | 2.02 (1.97–2.21) | 359 (300–597) | 342 (312–573) | ||
| SGLT2 mutation no, median (IQR) | 44 (34.3–65.6) | 31.4 (26.1–45.5) | 2.40 (2.10–3.40) | 400 (317–504) | 361 (225–575) | ||
| Mann-Whitney U test, P value | 0.60 | 0.55 | 0.20 | 0.90 | 0.97 | ||
Numbering is according to the pedigree in Figure 1. Raw data as well as median and interquartile range (IQR) of all parameters are presented. Between-group differences were analyzed by the Mann–Whitney U test. Plasma creatine and guanidinoacetate are in μmol/l. Creatine and guanidinoacetate excretion in the 24-hour urine are in μmol/24 h.