Table 1.
Summary of laboratory investigations, mutations at MCADD diagnosis and evolution.
| Acylcarnitines - mol/L (99.9th percentile) | Free fatty acids -mol/L (control values) | Mutation* | Follow-up (years) | PDI/IQ | Present status | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Patients | C8 (<0.52) | C10 (<0.5) | C10:1 (<0.33) | C8/C10 (<1.85) | C8/C2 (<0.02) | C8:0 (≤1-8) | C10:0 (4-9) | C10:1 (≤0.4-1) | ||||
| 1 | 1.31 | 0.20 | 0.27 | 6.62 | 0.12 | 80 | 22 | 10 | p.K329E/p.K329E | 6 | 104 | FS |
| 2 | 1.23 | 0.17 | 0.20 | 7.33 | 0.11 | 35 | 10 | 16 | p.K329E/p.K329E | 6 | 98 | FS |
| 3 | 3.06 | 0.38 | 0.66 | 7.94 | 0.34 | 200 | 12 | 28 | p.K329E/p.K329E | 5 | 87 | FS |
| 4 | 5.82 | 0.56 | 0.47 | 10.3 | 0.67 | 93 | 25 | 38 | p.K329E/p.K329E | 1 | nd | Exitus |
| 5 | 1.9 | 0.17 | 0.22 | 11.0 | 0.09 | 76 | 88 | 4.2 | p.K329E/p.K329E | 3 | 105 | FS |
| 6 | 9.4 | 0.71 | 0.97 | 13.2 | 0.74 | nd | nd | nd | p.K329E/p.K329E | 1 | nd | FS |
| 7 | 4.57 | 0.40 | 0.55 | 11.4 | 0.55 | nd | nd | nd | p.K329E/p.K329E | 1 | nd | FS |
| 8 | 0.84 | 0.50 | 0.33 | 1.64 | 0.07 | 6.8 | 6.8 | 4.2 | p.K329E/p.Y67H | 6 | 128 | FS |
| 9 | 1.72 | 0.22 | 0.61 | 7.53 | 0.22 | 120 | 28 | 6.1 | p.K329E/p.W82S | 6 | 142 | FS |
| 10 | 1.26 | 0.51 | 0.39 | 2.45 | 0.12 | nd | nd | nd | p.K329E/p.I416T | 0.6 | nd | FS |
| 11 | 5.19 | 0.81 | 0.56 | 6.38 | 0.6 | nd | nd | nd | p.G267R/p.D181G | 0.8 | 103 | FS |
FS: Free of Symptoms; nd= not done
PDI/IQ: Psychomotor Development Index/ Intellectual Quotient
*All mutations were named according to the precursor enzyme.