Accumulation of pristanic acid (2, 6, 10, 14 tetramethylpentadecanoic acid) in the plasma of patients with generalised peroxisomal dysfunction.
The plasma of some patients with biochemical evidence of a generalised peroxisomal dysfunction (GPD) show greatly increased levels of phytanic acid as well as its alpha-oxidation product, pristanic acid (2, 6, 10, 14-tetramethylpentadecanoic acid). Increased amounts of 14- and 16- carbon branched chain fatty acids are also found in some of these patients. As pristanic acid is present in normal or near-normal amounts in classical Refsum disease and rhizomelic chondrodysplasia, two disorders characterised by deficiencies in phytanic acid oxidation, we speculate that its accumulation is not secondary to a defect in the alpha-oxidation of phytanic acid, but is indicative of a block in the peroxisomal beta-oxidation of pristanic acid. The finding of phytanic acid, as well as a number of its metabolites in patients with inherited defects in peroxisomal biogenesis indicates that a number of the steps in phytanic acid degradation may be confined to peroxisomes.
D000326:Adrenoleukodystrophy / Q000097:blood; D002806:Chondrodysplasia Punctata / Q000097:blood; D005227:Fatty Acids / Q000097:blood*; D006801:Humans; D008064:Lipidoses / Q000097:blood* / Q000378:metabolism; D008830:Microbodies / Q000378:metabolism; D010831:Phytanic Acid / Q000378:metabolism; D012035:Refsum Disease / Q000097:blood
D005227:Fatty Acids; D010831:Phytanic Acid; C002844:pristanic acid