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Table 3 Differences in biochemical characteristics of ZSDs and phenotypical similar single enzyme deficiencies

From: Zellweger spectrum disorders: clinical overview and management approach

  ZSD DBP-D ACOX1-D Remarks
Plasma     
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     
Plasmalogen level ↓-N N N  
Blood spot     
C26:0 lysophosphatidylcholine  
Fibroblasts     
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  
  1. aVery long chain fatty acids: C26:0, C24:0/C22:0 ratio, C26:0/C22:0 ratio
  2. bMay be minimally abnormal to normal in exceptional cases