Table 2.

Plasma and urinary creatine and guanidinoacetate levels of family members

IndividualMCT12 MutationSGLT2 MutationAge (Years)Plasma24-Hour Urine
CreatineGuanidinoacetateCreatineGuanidinoacetate
II-1yesyes70.326.12.02252167
II-3yesyes65.341.43.231512656
II-7yesyes61.823.30.72359312
III-4yesyes40.239.62.21300342
III-7yesyes27.128.61.97597573
II-5yesno55.327.72.04421474
II-9yesno69.448.02.10480242
III-1yesno44.843.31.62430100
III-2yesno43.331.40.675761256
III-5yesno22.429.02.40926710
III-8yesno35.624.02.20428531
II-2nono68.651.03.50371226
II-4nono74.457.03.70380222
II-8nono64.79.62.18205244
II-10nono70.447.03.70583368
II-11nono53.744.02.40343354
III-6nono30.526.02.40229186
III-10nono38.734.03.20297630
III-11nono39.526.23.51324556
III-12nono22.623.02.1026191
III-13nono25.8NDND932661
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 value10.77<0.010.090.43
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 value0.600.550.200.900.97
  • 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.