Table 1.
Reference values of very long chain fatty acids in selected publications.
| Reference | Moser 199910 |
Ronghe 200226 |
Horn 201327 |
Martinez 199416* |
Streck 200028 |
Stellaard 199029 |
Morell 201013 |
Lagerstedt 200130 |
|||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Patients |
n = 1084 (hemi., ♂) |
n = 379 (het., ♀) |
n.r. | n.r. | n = 26 | n.a. | n.a. | n.a. | n = 1 | Overall ranges | |
| C26:0 [µmol/l] | 2.98 ± 0.34 | 1.77 ± 1.01 | n.r. | n.r. | 4.9 ± 2.4 | n.a. | n.a. | n.a. | 2.6 | [0.76–7.30] | |
| ratio C24:0/C22:0 | 1.49 ± 0.45 | 1.09 ± 0.34 | n.r. | n.r. | 1.48 ± 0.31 | n.a. | n.a. | n.a. | 1.46 | [0.75–1.94] | |
| ratio C26:0/C22:0 | 0.07 ± 0.04 | 0.03 ± 0.02 | n.r. | n.r. | 0.07 ± 0.03 | n.a. | n.a. | n.a. | 0.04 | [0.01–0.11] | |
| ABCD1 mutations | Not tested | Not tested | Partially tested | Not tested | n.a. | n.a. | n.a. | Not tested | |||
| Controls |
n = 11,048 (♂) |
n = 7331 (♀) |
n.r. | n.r. |
n = 27 (omni.) |
n = 4 (veg.) |
n = 22 | n = 21 |
n.r. (“in house”) |
n = 43 | Overall reference ranges |
| C26:0 [µmol/l] | 0.66 ± 0.38 | 0.66 ± 0.38 | 0.33–1.39 | 0.3–1.0 | 1.3 ± 0.4 | 2.2 ± 0.9 | 0.15–0.39 | 0.22–1.31 | 0.3–1.9 | 0.3–1.3 |
[0.15–1.9] with veg.[0.28–3.1]16 |
| C24:0/C22:0 | 0.86 ± 0.22 | 0.85 ± 0.20 | 0.32–0.90 | 0.49–0.91 | 0.82 ± 0.08 | 1.08 ± 0.11 | 0.66–0.94 | 0.32–1.19 | 0.3–1.1 | n.r. |
[0.32–1.19] with veg.[0.28–1.19]16 |
| C26:0/C22:0 | 0.01 ± 0.02 | 0.01 ± 0.01 | 0.0–0.03 | 0.006–0.021 | 0.02 ± 0.01 | 0.02 ± 0.01 | 0.005–0.012 | 0.003–0.021 | 0.02–0.025 | n.r. | [0–0.03] |
This table presents VLCFA values previously published for adult X-ALD patients (upper half) and healthy controls (lower half), the columns represent different publications. For the X-ALD patients, there is also listed if ABCD1 mutations were tested in these studies or not (see the center row of the table). *Martinez et al. did not differentiate between X-ALD and other peroxisomal diseases within the mentioned ranges. Data are presented as mean ± SD (standard deviation). C26:0 concentration shown is µmol/l (data was converted to match the unified unity µmol/l using a molecular weight of 396.702 for C26:0). The reference range was calculated using the mean ± SD and then taking from all reference values the lowest and the highest value each.
hemi., hemizygous; het., heterozygous; n.a., not applicable; n.r., not reported; veg., vegetarian; omni., omnivores.