Table 1.
Case | II-4 | II-3 | II-2 | IV-1 | IV-2 | Normal values (μmol/L) |
---|---|---|---|---|---|---|
C26 | 2.15 | 2.21 | 4.48 | 3.43 | 2.98 | 0.33-1.39 |
C26:C22 ratio | 0.055 | 0.059 | 0.066 | 0.070 | 0.061 | <0.030 |
C24:C22 ratio | 1.49 | 1.12 | 1.40 | 1.33 | 1.27 | 0.32-1.07 |
Age at onset (years) | 31 | 38 | 40 | 2.5 | 2.0 | |
Adrenal failure | Yes | Yes | Yes | Yes | Yes | |
Cerebral involvement (symptomatic) | Yes | No | No | Yes | No |