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

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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 α-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 α-oxidation of phytanic acid, but is indicative of a block in the peroxisomal β-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.

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Abbreviations

GPD:

generalised peroxisomal dysfunction

VLCFA:

very long chain fatty acids

THCA:

3α, 7α, 12α-trihydroxy-5β-cholestan-26-oic acid

br:

branched chain fatty acid

ALD:

adrenoleukodystrophy

DHAPAT:

dihydroxyacetone phosphate acyltransferase

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Authors and Affiliations

  1. Department of Chemical Pathology, Adelaide Children's Hospital, King William Road, 5006, North Adelaide, South Australia

    A. Poulos, P. Sharp, A. J. Fellenberg & D. W. Johnson

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  1. A. Poulos
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  2. P. Sharp
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  3. A. J. Fellenberg
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  4. D. W. Johnson
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Poulos, A., Sharp, P., Fellenberg, A.J. et al. Accumulation of pristanic acid (2, 6, 10, 14 tetramethylpentadecanoic acid) in the plasma of patients with generalised peroxisomal dysfunction. Eur J Pediatr 147, 143–147 (1988). https://doi.org/10.1007/BF00442211

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  • DOI: https://doi.org/10.1007/BF00442211

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