From: Zellweger spectrum disorders: clinical overview and management approach
 | ZSD | DBP-D | ACOX1-D | Remarks |
---|---|---|---|---|
Plasma | Â | Â | Â | Â |
Very long chain fatty acidsa | ↑b | ↑b | ↑b | False positives possible in ketogenic diets, hemolyzed samples and peanut rich diet. |
Di- and trihydroxycholestanoic acid | ↑b | N-↑ | N |  |
Phytanic acid | N-↑ | N-↑ | N | Derived from dietary sources only; dependent on dietary intake. Normal in newborns. |
Pristanic acid | N-↑ | N-↑ | N | Derived from dietary sources only (direct and indirectly via phytanic acid). Normal in newborns. |
Erythrocytes | Â | Â | Â | Â |
Plasmalogen level | ↓-N | N | N |  |
Blood spot | Â | Â | Â | Â |
C26:0 lysophosphatidylcholine | ↑ | ↑ | ↑ |  |
Fibroblasts | Â | Â | Â | Â |
Plasmalogen synthesis | ↓ | N | N |  |
DHAPAT | ↓ | N | N |  |
Alkyl DHAP synthase | ↓ | N | N |  |
C26:0 β-oxidation | ↓ | ↓ | ↓ |  |
Pristanic acid β-oxidation | ↓ | ↓ | N |  |
Acyl-CoA oxidase 1 | ↓-N | N | ↓ |  |
D-Bifunctional protein | ↓-N | ↓ | N |  |
Phytanic acid α-oxidation | ↓ | N | N |  |
Phytanoyl CoA hydroxylase | ↓ | N | N |  |
Peroxisomes | ↓ | N | N | Peroxisomal mosaicism can be present in ZSD. In DBP- and ACOX1-deficiency abnormal peroxisomal morphology may be present. |
Mutant gene | PEX1,2,3,5,6,10,11β,12,13,14,16,19,26 | HSD17B4 | ACOX |  |