Plasma analysis of very long chain fatty acids C22:0, C24:0 and C26:0, together with phytanic and pristanic acids, is the first step in the investigation of patients suspected to suffer from a peroxisomal disorder.
In an adapted form, the method is applicable for diagnosis in stored blood spots collected at neonatal screening, and prenatally in amniotic fluid, chorion biopsy material and cultured amniocytes.
As long as for unsaturated VLCFA the specific labelled analogs are not available, the saturated standards can be used for quantification of the unsaturated metabolites.
- [3,3,5,5-2H4]docosanoic acid
- [3,3,5,5-2H4]tetracosanoic acid
- [3,3,5,5-2H4]hexacosanoic acid
HJ ten Brink, C Jakobs, F Bickelhaupt. Synthesis of deuterium labelled analogues of very long chain fatty acids C22:0, C24:0 and C26:0 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) 723-726.
F Stellaard, HJ ten Brink, RM Kok, L van den Heuvel, C Jakobs. Stable isotope dilution analysis of very long chain fatty acids in plasma, urine and amniotic fluid by electron capture negative ion mass fragmentography. Clin Chim Acta 192 (1990) 133-144.
C Jakobs, CMM van den Heuvel, F Stellaard, C Largillière, F Skovby, E Christensen. Diagnosis of Zellweger syndrome by analysis of very long chain fatty acids in stored blood spots collected at neonatal screening. J Inher Metab Dis 16 (1993) 63-66.