Patient | Control | Zellweger spectrum disorder | |
Plasma | |||
Very-long-chain fatty acids | |||
C26:0 | 1.3 | 0.45–1.32 | 1.8–8.1 |
C24:0/C22:0 (ratio) | 0.86 | 0.57–0.92 | 0.92–2.52 |
C26:0/C22:0 (ratio) | 0.02 | 0–0.02 | 0.069–0.45 |
Branched-chain fatty acids | |||
Phytanic acid (μmol/l) | 4.6 | 0–9 | 1.6–115.7 |
Pristanic acid (μmol/l) | 0.6 | 0–4 | 0.5–30.3 |
Bile acid intermediates | |||
DHCA (μmol/l) | 0.0 | 0–0.02 | >0.02 |
THCA (μmol/l) | 0.0 | 0–0.08 | >0.08 |
Pipecolic acid (μmol/l) | 1.4 | 0.1–7 | 10–300 |
Erythrocytes | |||
Plasmalogens | |||
C16:0 DMA/C16:0 (ratio) | 4.9 | 6.8–11.9 | <6.8 |
C18:0 DMA/C18:0 (ratio) | 12.0 | 10.6–24.9 | <10.6 |
Fibroblasts | |||
Very-long-chain fatty acids | |||
C22:0 (μmol/g protein) | 5.47 | 3.84–10.20 | 2.36–5.59 |
C24:0 (μmol/g protein) | 11.04 | 7.76–17.66 | 5.41–13.39 |
C26:0 (μmol/g protein) | 0.27 | 0.18–0.38 | 0.59–3.38 |
C24/C22 (ratio) | 2.02 | 1.55–2.30 | 2.08–3.40 |
C26/C22 (ratio) | 0.05 | 0.03–0.07 | 0.11–1.17 |
β-oxidation | |||
C26:0 (pmol/(h*mg protein)) | 2069 | 1214–1508 | 50–350 |
Pristanic acid (pmol/(h*mg protein)) | 736 | 675–1121 | 0–30 |
α-oxidation | |||
Phytanic acid (pmol/(h*mg protein)) | 40 | 39–97 | 0–10 |
DHAPAT activity (nmol/(2 h*mg protein)) | 12 | 5.8–12.3 | 0.1–0.9 |
DHCA: dihydroxycholestanoic acid, THCA: trihydroxycholestanoic acid, DMA: dimethyl acetal, DHAPAT: dihydroxyacetonephosphate acyltransferase.