Table 1 Biochemical and genetic characteristics of 49 patients with primary carnitine deficiency (PCD)
Patient no | Gender | C0 | C0-F1 | Genotype | References | |
|---|---|---|---|---|---|---|
1 | Male | 4.61 | 6.29 | c.51C > G (p.F17L) | c.1195C > T(p.R399W) | This study |
2 | Female | 3.28 | 3.17 | c.51C > G (p.F17L) | c.51C > G (p.F17L) | This study |
3 | Female | 2.37 | 1.05 | c.338G > A (p.C113Y) | c.760C > T (p.R254*) | This study |
4 | Male | 7.65 | 5.04 | c.51C > G (p.F17L) | c.1400C > G (p.S467C) | This study |
5 | Male | 3.75 | 3.19 | c.760C > T (p.R254*) | c.1400C > G (p.S467C) | This study |
6 | Male | 2.72 | 2.86 | c.844C > T (p.R282*) | c.1400C > G (p.S467C) | This study |
7 | Female | 2.54 | 2.29 | c.695C > T (p.T232M) | c.760C > T (p.R254*) | This study |
8 | Male | 5.29 | 6.58 | c.51C > G (p.F17L) | c.1195C > T(p.R399W) | This study |
9 | Female | 5.02 | 5.53 | c.428C > T (p.P143L) | c.428C > T (p.P143L) | This study |
10 | Female | 1.63 | 1.67 | c.760C > T (p.R254*) | c.760C > T (p.R254*) | This study |
11 | Male | 2.31 | 2.76 | c.51C > G (p.F17L) | c.1161 T > G(p.Y387*) | This study |
12 | Female | 3.49 | 3.52 | c.51C > G (p.F17L) | c.760C > T (p.R254*) | Lin et al. [10] |
13 | Male | 1.96 | 1.73 | c.51C > G (p.F17L) | c.760C > T (p.R254*) | Lin et al. [21] |
14 | Female | 2.40 | 1.44 | c.760C > T (p.R254*) | c.760C > T (p.R254*) | Lin et al. [21] |
15 | Male | 5.78 | 10.67 | c.760C > T (p.R254*) | c.797C > T (p.P266L) | Lin et al. [21] |
16 | Male | 5.95 | 8.64 | c.695C > T (p.T232M) | c.1160A > G (p.Y387C) | Lin et al. [21] |
17 | Female | 7.27 | 6.66 | c.760C > T (p.R254*) | c.797C > T (p.P266L) | Lin et al. [21] |
18 | Female | 5.58 | 5.59 | c.760C > T (p.R254*) | c.1400C > G (p.S467C) | Lin et al. [21] |
19 | Female | 5.34 | 6.02 | c.797C > T (p.P266L) | c.394-1G > A | Lin et al. [21] |
20 | Female | 1.78 | 1.90 | c.695C > T (p.T232M) | c.1139C > T (p.A380V) | Lin et al. [21] |
21 | Male | 4.34 | 4.45 | c.51C > G (p.F17L) | c.51C > G (p.F17L) | Lin et al. [21] |
22 | Female | 4.75 | 4.16 | c.760C > T (p.R254*) | c.845G > A (p.R282Q) | Lin et al. [21] |
23 | Female | 3.45 | 5.24 | c.760C > T (p.R254*) | c.1400C > G (p.S467C) | Lin et al. [21] |
24 | Female | 6.82 | 5.02 | c.760C > T (p.R254*) | c.1400C > G (p.S467C) | Lin et al. [21] |
25 | Male | 2.19 | 2.12 | c.822G > A (p.W274*) | c.782_799del ((p.V261_P266del) | Lin et al. [21] |
26 | Male | 2.73 | 9.84 | c.51C > G (p.F17L) | c.1144_1162del (p.V382Cfs*45) | Lin et al. [21] |
27 | Male | 3.00 | 10.81 | c.51C > G (p.F17L) | c.1400C > G (p.S467C) | Lin et al. [21] |
28 | Male | 6.46 | 5.10 | c.695C > T (p.T232M) | c.1400C > G (p.S467C) | Lin et al. [21] |
29 | Male | 3.02 | 1.77 | c.760C > T (p.R254*) | c.760C > T (p.R254*) | Lin et al. [21] |
30 | Female | 6.77 | 10.05 | c.1400C > G (p.S467C) | c.1400C > G (p.S467C) | Lin et al. [21] |
31 | Female | 2.36 | 1.75 | c.760C > T (p.R254*) | c.760C > T (p.R254*) | Lin et al. [21] |
32 | Female | 3.12 | 2.88 | c.760C > T (p.R254*) | c.51C > G (p.F17L) | Lin et al. [21] |
33 | Male | 3.64 | 3.80 | c.695C > T (p.T232M) | c.1139C > T (p.A380V) | Lin et al. [21] |
34 | Female | 3.56 | 4.31 | c.760C > T (p.R254*) | c.1139C > T (p.A380V) | Lin et al. [21] |
35 | Female | 6.27 | 3.43 | c.695C > T (p.T232M) | c.1139C > T (p.A380V) | Lin et al. [21] |
36 | Female | 2.70 | 3.46 | c.760C > T (p.R254*) | c.51C > G (p.F17L) | Lin et al. [21] |
37 | Male | 7.35 | 14.27 | c.338G > A (p.C113Y) | c.338G > A (p.C113Y) | Lin et al. [21] |
38 | Male | 8.25 | 2.51 | c.51C > G (p.F17L) | c.338G > A (p.C113Y) | Lin et al. [26] |
39 | Male | 2.45 | 1.14 | c.760C > T (p.R254*) | c.760C > T (p.R254*) | Lin et al. [26] |
40 | Male | 2.8 | 1.74 | c.760C > T (p.R254*) | c.1161 T > G(p.Y387*) | Lin et al. [26] |
41 | Female | 6.83 | 4.59 | c.760C > T (p.R254*) | c.1400C > G(p.S467C) | Lin et al. [26] |
42 | Female | 6.22 | 11.14 | c.760C > T (p.R254*) | c.1400C > G(p.S467C) | Lin et al. [26] |
43 | Female | 6.16 | 4.02 | c.695C > T(p.T232M) | c.1400C > G(p.S467C) | Lin et al. [26] |
44 | Male | 6.77 | 4.5 | c.760C > T (p.R254*) | c.1400C > G(p.S467C) | Lin et al. [26] |
45 | Female | 4.91 | 6.66 | c.250 T > A(p.Y84N) | c.1400C > G(p.S467C) | Lin et al. [26] |
46 | Male | 3.24 | 4.05 | c.51C > G (p.F17L) | c.1196G > A(p.R399Q) | Lin et al. [26] |
47 | Male | 4.96 | 5 | c.51C > G (p.F17L) | c.1195C > T(p.R399W) | Lin et al. [26] |
48 | Female | 3.15 | 4.09 | c.760C > T (p.R254*) | c.1400C > G(p.S467C) | Lin et al. [26] |
49 | Female | 4.12 | 1.29 | c.760C > T (p.R254*) | c.760C > T (p.R254*) | Lin et al. [26] |