Table 1

Standard biochemical peroxisomal parameters measured in plasma, erythrocytes and cultured skin fibroblasts

PatientControlZellweger spectrum disorder
Plasma
 Very-long-chain fatty acids
  C26:01.30.45–1.321.8–8.1
  C24:0/C22:0 (ratio)0.860.57–0.920.92–2.52
  C26:0/C22:0 (ratio)0.020–0.020.069–0.45
 Branched-chain fatty acids
  Phytanic acid (μmol/l)4.60–91.6–115.7
  Pristanic acid (μmol/l)0.60–40.5–30.3
Bile acid intermediates
  DHCA (μmol/l)0.00–0.02>0.02
  THCA (μmol/l)0.00–0.08>0.08
  Pipecolic acid (μmol/l)1.40.1–710–300
Erythrocytes
 Plasmalogens
  C16:0 DMA/C16:0 (ratio)4.96.8–11.9<6.8
  C18:0 DMA/C18:0 (ratio)12.010.6–24.9<10.6
Fibroblasts
 Very-long-chain fatty acids
  C22:0 (μmol/g protein)5.473.84–10.202.36–5.59
  C24:0 (μmol/g protein)11.047.76–17.665.41–13.39
  C26:0 (μmol/g protein)0.270.18–0.380.59–3.38
  C24/C22 (ratio)2.021.55–2.302.08–3.40
  C26/C22 (ratio)0.050.03–0.070.11–1.17
 β-oxidation
  C26:0 (pmol/(h*mg protein))20691214–150850–350
  Pristanic acid (pmol/(h*mg protein))736675–11210–30
 α-oxidation
  Phytanic acid (pmol/(h*mg protein))4039–970–10
  DHAPAT activity (nmol/(2 h*mg protein))125.8–12.30.1–0.9
  • DHCA: dihydroxycholestanoic acid, THCA: trihydroxycholestanoic acid, DMA: dimethyl acetal, DHAPAT: dihydroxyacetonephosphate acyltransferase.