Abstract
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.
Highlights
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
Phytanic acid was long thought to accumulate only in plasma and tissues fkom patients with classic Refsum's disease where the a-hydroxylation step is deficient [1].in recent years it has become clear that phytanic acid is elevated in patients with a deficiency of morphologically distinguishable peroxisomes, i.e., Zellweger syndrome, infantile Refsum's disease (IRD), and neonatal adrenoleukodystrophy (NALD) (see [2]and [3]for reviews), and in patients with rhizomelic chondrodysplasia punctata (RCDP) [4]
Pristanoyl-CoA oxidase activity was identified in human liver and appeared deficient in the Zellweger syndrome [7].These findings suggest the involvement of peroxisomes in pristanic acid poxidation, raising the need for a reliable method to measure pristanic acid concentrations in body fluids as a tool in the diagnosis of peroxisomal disorders
Summary
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. Phytanic acid was long thought to accumulate only in plasma and tissues fkom patients with classic Refsum's disease where the a-hydroxylation step is deficient [1].in recent years it has become clear that phytanic acid is elevated in patients with a deficiency of morphologically distinguishable peroxisomes, i.e., Zellweger syndrome, infantile Refsum's disease (IRD), and neonatal adrenoleukodystrophy (NALD) (see [2]and [3]for reviews), and in patients with rhizomelic chondrodysplasia punctata (RCDP) [4] In all these cases a concomitant impairment of phytanic acid a-oxidation was measured. Pristanoyl-CoA oxidase activity was identified in human liver and appeared deficient in the Zellweger syndrome [7].These findings suggest the involvement of peroxisomes in pristanic acid poxidation, raising the need for a reliable method to measure pristanic acid concentrations in body fluids as a tool in the (differential) diagnosis of peroxisomal disorders
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