Accumulation of pristanic acid (2, 6, 10, 14 tetramethylpentadecanoic acid) in the plasma of patients with generalised peroxisomal dysfunction.

Abstract

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.

• Authors: A Poulos, P Sharp, A J Fellenberg, D W Johnson
• Journal: European journal of pediatrics (Eur J Pediatr) Vol. 147 Issue 2 Pg. 143-7 (Feb 1988) ISSN: 0340-6199 [Print] Germany
• PMID: 2452737 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Fatty Acids
• Phytanic Acid
• pristanic acid

Topics

• Adrenoleukodystrophy (blood)
• Chondrodysplasia Punctata (blood)
• Fatty Acids (blood)
• Humans
• Lipidoses (blood, metabolism)
• Microbodies (metabolism)
• Phytanic Acid (metabolism)
• Refsum Disease (blood)