| Literature DB >> 35073939 |
Yiming Lin1, Bangbang Lin2, Yanru Chen1, Zhenzhu Zheng1, Qingliu Fu1, Weihua Lin3, Weifeng Zhang4.
Abstract
Entities:
Year: 2022 PMID: 35073939 PMCID: PMC8785475 DOI: 10.1186/s13023-022-02173-4
Source DB: PubMed Journal: Orphanet J Rare Dis ISSN: 1750-1172 Impact factor: 4.123
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.1161T>G (p.Y387*) | This study |
| 12 | Female | 3.49 | 3.52 | c.51C>G (p.F17L) | c.760C>T (p.R254*) | Lin et al. 2020 [10] |
| 13 | Male | 1.96 | 1.73 | c.51C>G (p.F17L) | c.760C>T (p.R254*) | Lin et al. 2021 [21] |
| 14 | Female | 2.40 | 1.44 | c.760C>T (p.R254*) | c.760C>T (p.R254*) | Lin et al. 2021 [21] |
| 15 | Male | 5.78 | c.760C>T (p.R254*) | c.797C>T (p.P266L) | Lin et al. 2021 [21] | |
| 16 | Male | 5.95 | c.695C>T (p.T232M) | c.1160A>G (p.Y387C) | Lin et al. 2021 [21] | |
| 17 | Female | 7.27 | 6.66 | c.760C>T (p.R254*) | c.797C>T (p.P266L) | Lin et al. 2021 [21] |
| 18 | Female | 5.58 | 5.59 | c.760C>T (p.R254*) | c.1400C>G (p.S467C) | Lin et al. 2021 [21] |
| 19 | Female | 5.34 | 6.02 | c.797C>T (p.P266L) | c.394-1G>A | Lin et al. 2021 [21] |
| 20 | Female | 1.78 | 1.90 | c.695C>T (p.T232M) | c.1139C>T (p.A380V) | Lin et al. 2021 [21] |
| 21 | Male | 4.34 | 4.45 | c.51C>G (p.F17L) | c.51C>G (p.F17L) | Lin et al. 2021 [21] |
| 22 | Female | 4.75 | 4.16 | c.760C>T (p.R254*) | c.845G>A (p.R282Q) | Lin et al. 2021 [21] |
| 23 | Female | 3.45 | 5.24 | c.760C>T (p.R254*) | c.1400C>G (p.S467C) | Lin et al. 2021 [21] |
| 24 | Female | 6.82 | 5.02 | c.760C>T (p.R254*) | c.1400C>G (p.S467C) | Lin et al. 2021 [21] |
| 25 | Male | 2.19 | 2.12 | c.822G>A (p.W274*) | c.782_799del ((p.V261_P266del) | Lin et al. 2021 [21] |
| 26 | Male | 2.73 | c.51C>G (p.F17L) | c.1144_1162del (p.V382Cfs*45) | Lin et al. 2021 [21] | |
| 27 | Male | 3.00 | c.51C>G (p.F17L) | c.1400C>G (p.S467C) | Lin et al. 2021 [21] | |
| 28 | Male | 6.46 | 5.10 | c.695C>T (p.T232M) | c.1400C>G (p.S467C) | Lin et al. 2021 [21] |
| 29 | Male | 3.02 | 1.77 | c.760C>T (p.R254*) | c.760C>T (p.R254*) | Lin et al. 2021 [21] |
| 30 | Female | 6.77 | c.1400C>G (p.S467C) | c.1400C>G (p.S467C) | Lin et al. 2021 [21] | |
| 31 | Female | 2.36 | 1.75 | c.760C>T (p.R254*) | c.760C>T (p.R254*) | Lin et al. 2021 [21] |
| 32 | Female | 3.12 | 2.88 | c.760C>T (p.R254*) | c.51C>G (p.F17L) | Lin et al. 2021 [21] |
| 33 | Male | 3.64 | 3.80 | c.695C>T (p.T232M) | c.1139C>T (p.A380V) | Lin et al. 2021 [21] |
| 34 | Female | 3.56 | 4.31 | c.760C>T (p.R254*) | c.1139C>T (p.A380V) | Lin et al. 2021 [21] |
| 35 | Female | 6.27 | 3.43 | c.695C>T (p.T232M) | c.1139C>T (p.A380V) | Lin et al. 2021 [21] |
| 36 | Female | 2.70 | 3.46 | c.760C>T (p.R254*) | c.51C>G (p.F17L) | Lin et al. 2021 [21] |
| 37 | Male | 7.35 | c.338G>A (p.C113Y) | c.338G>A (p.C113Y) | Lin et al. 2021 [21] | |
| 38 | Male | 8.25 | 2.51 | c.51C>G (p.F17L) | c.338G>A (p.C113Y) | Lin et al. 2019 [26] |
| 39 | Male | 2.45 | 1.14 | c.760C>T (p.R254*) | c.760C>T (p.R254*) | Lin et al. 2019 [26] |
| 40 | Male | 2.8 | 1.74 | c.760C>T (p.R254*) | c.1161T>G (p.Y387*) | Lin et al. 2019 [26] |
| 41 | Female | 6.83 | 4.59 | c.760C>T (p.R254*) | c.1400C>G (p.S467C) | Lin et al. 2019 [26] |
| 42 | Female | 6.22 | c.760C>T (p.R254*) | c.1400C>G (p.S467C) | Lin et al. 2019 [26] | |
| 43 | Female | 6.16 | 4.02 | c.695C>T (p.T232M) | c.1400C>G (p.S467C) | Lin et al. 2019 [26] |
| 44 | Male | 6.77 | 4.5 | c.760C>T (p.R254*) | c.1400C>G (p.S467C) | Lin et al. 2019 [26] |
| 45 | Female | 4.91 | 6.66 | c.250T>A (p.Y84N) | c.1400C>G (p.S467C) | Lin et al. 2019 [26] |
| 46 | Male | 3.24 | 4.05 | c.51C>G (p.F17L) | c.1196G>A (p.R399Q) | Lin et al. 2019 [26] |
| 47 | Male | 4.96 | 5 | c.51C>G (p.F17L) | c.1195C>T (p.R399W) | Lin et al. 2019 [26] |
| 48 | Female | 3.15 | 4.09 | c.760C>T (p.R254*) | c.1400C>G (p.S467C) | Lin et al. 2019 [26] |
| 49 | Female | 4.12 | 1.29 | c.760C>T (p.R254*) | c.760C>T (p.R254*) | Lin et al. 2019 [26] |
The C0 levels within the cut-of value are given in bold
C0: free carnitine detected at newborn screening, C0-F1: C0 retested at recall stage, cutoff value: 8.5–50 μmol/L