Table 2.
Fibroblast analysis in different genotypes to determine residual OCTN2 activity (pmol/min per mg protein). *Genotype not included in statistical analyses due to low number of patients. RH: risk-haplotype. Wildtype: no c.95A > G mutation found. Note, fibroblast analysis was not performed in patients with c.95A > G/c.825-52G > A.
| Genotype | n | Mean | SD | SEM | Minimum | Maximum | 95% CI for mean |
% of normal (wildtype) | |
|---|---|---|---|---|---|---|---|---|---|
| Lower bound | Upper bound | ||||||||
| c.95A > G/c.95A > G | 6 | 0.02 | 0.02 | 0.01 | 0.0 | 0.06 | 0.01 | 0.04 | 4 |
| c.95A > G/RH | 7 | 0.11 | 0.03 | 0.01 | 0.07 | 0.16 | 0.08 | 0.14 | 18 |
| RH/RH | 6 | 0.18 | 0.05 | 0.02 | 0.08 | 0.22 | 0.12 | 0.23 | 29 |
| c.95A > G/wildtype | 6 | 0.29 | 0.14 | 0.06 | 0.20 | 0.55 | 0.15 | 0.43 | 46 |
| wildtype/wildtype | 5 | 0.62 | 0.10 | 0.04 | 0.50 | 0.74 | 0.50 | 0.75 | 100 |
| c.825-52G > A/c.825-52G > A* | 2 | 0.1 | 0.07 | 0.05 | 0.05 | 0.15 | 0.00 | 0.74 | - |