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Table 1 Peroxisome functions and their biochemical consequences and possible clinical relevance in ZSDs

From: Zellweger spectrum disorders: clinical overview and management approach

Peroxisome function Biochemical consequence Possible clinical relevance
β-oxidation of VLCFA (≥C22) Impaired chain shortening of VLCFA, last step in DHA synthesis is impaired Brain, nerve and adrenal damage due to VLCFA tissue accumulation, DHA deficiency affects brain function and vision
β-oxidation of methyl-branched chain fatty acid, DHCA and THCA Impaired chain shortening of DHCA, THCA and pristanic acid Pristanic acid accumulation affects brain function, accumulation of DHCA and THCA causes liver toxicity and probably also brain damage
α-oxidation of fatty acids Impaired (pre-) degradation of methyl branched phytanic acid Retinal degeneration, brain and nerve damage due to phytanic acid accumulation
Fatty acid racemization Reduced convertion of pristanoyl-CoA and C27-bile acyl-CoAs into stereoisomers before β-oxidation Tissue accumulation of DHCA, THCA, pristanic- and phytanic acid
Ether phospholipid (plasmalogen) biosynthesis Impaired formation of ether phospholipids Plasmalogen deficiency gives rise to growth- and psychomotor retardation, cataract and bone development anomalies
Glyoxylate detoxification Conversion of glyoxylate into oxalate, a toxic metabolite Accumulation leads to calcium oxalate renal stones
L-lysine oxidation Impaired L-pipecolic acid degradation Accumulation of pipecolic acid, no clinical consequences known [78]
Hydrogen peroxide detoxification Decreased catabolism of hydrogen peroxide Increased reactive oxidant damage