Plasma analysis of phytanic acid and pristanic acid is an important tool in the
biochemical diagnosis of peroxisomal disorders. In addition to measurement of
absolute values, establishing pristanic acid / phytanic acid ratios is of value
for the differential diagnosis of Refsum Disease, Rhizomelic Chondrodysplasia
Punctata, Peroxisome Deficiency Disorders and isolated peroxisomal
ß-Oxidation Deficiencies. Alternatively diagnosis of some of these
diseases can be obtained by application of the method to stored blood
Quantification of both acids is usefully combined with the analysis of very long chain fatty acids.
- phytanic acid
- pristanic acid
- [3-methyl-2H3]phytanic acid
- [2-methyl-2H3]pristanic acid
HJ ten Brink, C Jakobs, JL van der Baan, F Bickelhaupt. Synthesis of deuterium labelled analogues of pristanic acid and phytanic acid for use as internal standards in stable isotope dilution analysis. In: Synthesis and Applications of Isotopically Labelled Compounds 1988 (TA Baillie, JR Jones, eds.). Elsevier Science Publishers BV, Amsterdam (1989) 717-722.
HJ ten Brink, F Stellaard, CMM van den Heuvel, RM Kok, DSM Schor, RJA Wanders, C Jakobs. Pristanic acid and phytanic acid in plasma from patients with peroxisomal disorders: stable isotope dilution analysis with electron capture negative ion mass fragmentography. J Lipid Res 33 (1992) 41-47.
HJ ten Brink, CMM van den Heuvel, E Christensen, C Largillière, C Jakobs. Diagnosis of peroxisomal disorders by analysis of phytanic and pristanic acids in stored blood spots collected at neonatal screening. Clin Chem 39 (1993) 1904-1906.