Table 1.
Biochemical findings in plasma and erythrocytes of the index patient and controls
| Parameter measured | Index patient | Controls, mean (5–90% range) |
|---|---|---|
| Plasma | ||
| VLCFA | ||
| C26:0, μM | 4.60 | 0.78 (0.27–1.56) |
| n = 109 | ||
| C26:0/C22:0 ratio | 0.24 | 0.01 (0.00–0.02) |
| n = 109 | ||
| Pristanic acid, μM | 6.03 | <3 |
| n = 30 | ||
| Phytanic acid, μM | 4.10 | <9 |
| n = 30 | ||
| Bile acid intermediates | ||
| DHC, μM | 0.30 | ND |
| THC, μM | 1.26 | ND |
| Varanic acid, μM | 10.42 | ND |
| Erytrocytes | ||
| % plasmalogens | ||
| C16:0 | 10.0 | 10.2 (6.8–11.9) |
| n = 30 | ||
| C18:0 | 23.4 | 22.7 (10.6–24.9) |
| n = 30 |
ND, not detectable; VLCFA, very-long-chain fatty acids; THC, trihydroxycholestanoic acid; DHC, dihydroxycholestanoic acid.