Phytanic acid and very long chain fatty acids in genetic peroxisomal disorders
Molzer, B.; Kainz-Korschinsky, M.; Sundt-Heller, R.; Bernheimer, H.
Journal of Clinical Chemistry and Clinical Biochemistry 27(5): 309-314
1989
ISSN/ISBN: 0340-076X PMID: 2474624 Document Number: 343239
1. Phytanic acid phytanyl-triacylglycerols, and very long chain fatty acids were analysed by gas chromatography or thin-layer chromatography in blood and tissues of patients with different genetic peroxisomal disorders (Refsum,s disease, X-linked adrenoleukodystrophy, neonatal adrenoleukodystrophy, Zellweger syndrome). 2. We evaluated these analyses in the detection of patients with Refsum's disease, X-linked adrenoleukodystrophy, neonatal adrenoleukodystrophy, and Zellweger syndrome, and of carriers of X-linked adrenoleukodystrophy. In particular, the analysis of phytanyl-triacylglycerols by thin-layer chromatography proved to be a rapid and reliable method for the detection of patients and the monitoring of their dietary treatment in Refsum's disease. In X-linked adrenoleukodystrophy, carrier detection may depend on very long chain fatty acid analysis in more than one material (e.g. plasma and fibroblasts). 3. Analysis of phytanic acid showed that in patients with multiple impairments of peroxisomal functions (Zellweger syndrome, neonatal adrenoleukodystrophy) phytanic acid levels may be increased not only in serum, but also in the tissue (e.g. brain, adrenals, kidney). 4. Analysis of very long chain fatty acids in cholesterol esters from the brain, adrenals, kidney, and liver of patients with peroxisomal disorders revealed four different types of very long chain fatty acid patterns according to the behaviour of C 26:0 and of other saturated and monounsaturated very long chain fatty acids. These results led to the following conclusions: 1) accumulation of C 26:) fatty acid in the brain seems not to be obligatory in Zellweger syndrome; 2) different tissues seem to display different vulnerability to very long chain fatty acid accumulation (e.g. adrenals .gtoreq. kidney > liver); 3) in peripheral tissues accumulation of very long chain fatty acids seems to develop more rapidly in disorders with multiple impairments of peroxisomal functions than in a disease with a a singular peroxisomal defect; 4) in disorders with multiple impairments of peroxisomal functions accumulation of very long chain fatty acids seems to develop more rapidly in peripheral tissues than in brain.