Pristanic acid and phytanic acid in plasma from patients with peroxisomal disorders: stable isotope dilution analysis with electron capture negative ion mass fragmentography.
A sensitive and selective stable isotope dilution method was developed for the accurate quantitation of pristanic acid and phytanic acid using electron capture negative ion mass fragmentography on pentafluorobenzyl derivatives. This technique allows detection of 1 pg of each compound and was applied to plasma from healthy controls and patients suffering from various peroxisomal disorders. The age-dependency of phytanic and pristanic acid levels in plasma from healthy controls was demonstrated. The involvement of peroxisomes in the beta-oxidation of pristanic acid was concluded from its accumulation in plasma from patients with peroxisomal deficiencies. Pristanic acid/phytanic acid ratios were markedly increased in bifunctional protein and/or 3-oxoacyl-CoA thiolase deficiency, indicating their role in the (differential) diagnosis of disorders of peroxisomal beta-oxidation.
Department of Pediatrics, Free University Hospital, Amsterdam, The Netherlands.
H J
HJ
ten Brink
F
F
Stellaard
C M
CM
van den Heuvel
R M
RM
Kok
D S
DS
Schor
R J
RJ
Wanders
C
C
Jakobs
D000375:Aging / Q000378:metabolism; D002675:Child, Preschool; D005227:Fatty Acids / Q000097:blood*; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D007201:Indicator Dilution Techniques; D007223:Infant; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000097:blood*; D008830:Microbodies / Q000378:metabolism*; D010831:Phytanic Acid / Q000097:blood*; D012035:Refsum Disease / Q000097:blood
D005227:Fatty Acids; D010831:Phytanic Acid; C002844:pristanic acid