Table 1.
Mean free carnitine in different PCD genotypes, carriers and people without PCD related mutations. *Genotype not included in statistical analyses due to low number of patients. **Two patients were excluded in the analysis because they had taken L-carnitine supplementation when tested. Three patients with other genotypes were not included in the analysis. RH: risk-haplotype. Wildtype: no c.95A > G mutation found.
| Genotype |
n (total) |
n (included in analysis) |
Mean fC0 |
SD |
Minimum |
Maximum |
95% CI for mean |
|
|---|---|---|---|---|---|---|---|---|
| μmol/L | Lower bound | Upper bound | ||||||
| c.95A > G/c.95A > G | 20 | 20 | 2.03 | 0.66 | 1.25 | 3.34 | 1.72 | 2.34 |
| c.95A > G/RH | 46 | 44** | 3.52 | 0.86 | 1.67 | 5.63 | 3.26 | 3.78 |
| c.95A > G/c.825-52G > A | 10 | 10 | 4.22 | 1.91 | 2.09 | 8.16 | 2.85 | 5.59 |
| RH/RH | 8 | 8 | 5.42 | 0.79 | 4.09 | 6.31 | 4.76 | 6.08 |
| c.95A > G/wildtype | 94 | 94 | 13.02 | 4.12 | 5.60 | 25.34 | 12.18 | 13.87 |
| wildtype/wildtype | 302 | 302 | 21.48 | 6.19 | 7.36 | 44.98 | 20.77 | 22.18 |
| c.825-52G > A/c.825-52G > A* | 2 | 0 | 4.8 | – | 4.00 | 5.60 | – | – |
| c.136C > T/c.825-52G > A* | 1 | 0 | 1.8 | – | – | – | – | – |
| c.95A > G/c.136C > T* | 1 | 0 | 3.2 | – | – | – | – | – |
| c.131C > T/RH* | 1 | 0 | 4.0 | – | – | – | – | – |