Table 1 Hormonal and VLCFA profile of the family
Marker | Proband | Proband’s brother | Proband’s Sister carrier | Normal values |
|---|---|---|---|---|
ACTH | 1250 | 254 | NA | 7–69 pg/ml |
Cortisol (serum) | 3.1 | 4.5 | NA | 4.3–22.4 μg/dl |
C26:0 | 1.22 | 1.34 | 0.69 | 0.10–0.60 mg/l |
C24:0 | 29.80 | 42.60 | 28.30 | 8.50–35.70 mg/l |
C22:0 | 17.10 | 40.5 | 23.10 | 10.50–51.00 mg/l |
C26:0/C22:0 | 0.07 | 0.4 | 0.03 | < 0.04 |
C24:0/C22:0 | 1.74 | 1.34 | 1.23 | < 1.16 |