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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