Table 4. Comparison of indices in heterozygous carriers and normal controls.
| Indices | Heterozygous carriers (n=20) | Normal controls (n=40) | P |
|---|---|---|---|
| C12 | 0.06±0.051 | 0.07±0.021 | 0.29 |
| C14 | 0.15±0.061 | 0.17±0.041 | 0.23 |
| C16 | 2.62±0.761 | 2.59±0.571 | 0.90 |
| C18 | 0.81±0.191 | 0.79±0.171 | 0.65 |
| C16:1 | 0.17±0.081 | 0.18±0.051 | 0.81 |
| C18:1 | 1.45±0.621 | 1.40±0.301 | 0.76 |
| C18:2 | 0.32±0.181 | 0.23±0.081 | 0.05 |
| C16:1-OH | 0.04±0.011 | 0.03±0.011 | 0.06 |
| (C16 + C18)/C0 | 0.13±0.05 | 0.15±0.04 | 0.24 |
| (C16 + C18:1)/C2 | 0.27±0.08 | 0.18±0.04 | <0.01 |
| C14/C3 | 0.09±0.04 | 0.09±0.03 | 0.89 |
| C16/C2 | 0.17±0.06 | 0.12±0.03 | <0.01 |
| C16/C3 | 1.66±0.66 | 1.43±0.42 | 0.17 |
| C18/C3 | 0.51±0.17 | 0.44±0.14 | 0.08 |
| C16:1/C3 | 0.11±0.06 | 0.10±0.03 | 0.35 |
| C16:1-OH/C3 | 0.02±0.007 | 0.02±0.005 | 0.01 |
Heterozygous carriers: only the c.199-10T>G mutant of the SLC25A20 gene was present without any pathogenic and likely pathogenic mutations and mutations of uncertain significance in the CPT2 gene. Normal controls: absence of pathogenic and likely pathogenic mutations and mutations of uncertain significance in SLC25A20 and CPT2 gene. Data are presented as mean values ± standard deviation. 1, the unit is μmol/L. C12, dodecanoylcarnitine; C14, tetradecanoylcarnitine; C16, palmitoylcarnitine; C18, stearylcarnitine; C16:1, hexadecenoylcarnitine; C18:1, octadecenoylcarnitine; C18:2, linoleylcarnitine; C16:1-OH, hydroxy hexadecenoylcarnitine; C0, free carnitine; C2, acetylcarnitine; C3, propionylcarnitine.