Separation of lipids containing phytanic acid by thin‐layer chromatography

Karlsson, Karl‐Anders; Nilsson, Kelly Dimovska; Pascher, I.

doi:10.1007/bf02531276

Cited by 7 publications

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References 9 publications

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“…In untreated patients thin-layer chromatography of plasma lipids reveals a triacylglycerol pattern composed of three fractions (19,20):…”

Section: Resultsmentioning

confidence: 99%

Short Communication

1989

Clinical Chemistry and Laboratory Medicine

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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 (Refswrfs disease, X-linked adrenoleukodystrophy, neonatal adrenoleukodystrophy, Zellweger syndrome). We evaluated these analyses in the detection of patients withRefsufrfs 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 de^· tection 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 serüm, but also in the tissue (e. g. brain, adrenals, kidney).In the present account we report our studies on the diagnosis of patients (M. Refsum, X-linked adrenoleukodystrophy/ adrenomyeloneuropathy; Zellweger syndrome, neonatal adrenoleukodystrophy) and carriers (X-linked adrenoleukodystrophy/adrenomyeloneuropathy) of peroxisomal disorders by the assay of phytanic acid and/or very long chain fatty acids in blood lipids. Furthermore, in order to study the distribution of very long chain fatty acids and phytanic acid in different tissues of patients with genetic peroxisomal disorders, we investigated the fatty acid patterns of cholesterol esters in the brain and visceral organs in Zellweger syndrome, neonatal adrenoleukodystrophy, and X-linked adrenoleukodystrophy.Summary: Fibroblasts of patients sufTering from peroxisomal disorders such äs chondrodysplasia punctata (rhizomelic type), neonatal adrenoleukodystrophy, Zellweger syndrome and control fibroblasts were used for the evaluation of a procedure suitable for pre-and postnatal diagnosis.This technique is based on the detection of impaired peroxisomal plasmalogen synthesis by means of a double Substrate, double labelling technique using 14 C-labelled hexadecanol and ? H-labelled hexadecylglycerol äs precursors for peroxisomal and microsomal plasmalogen synthesis. Pathological cells are characterized by a decreased utilization of hexadecanol, thus resulting in an increased 3 H/ 14 C ratio within plasmalogens. Sensitivity and reproducibility of this method were improved by changing both the Chromatographie cpnditions and the calculation of the diagnostic parameters. Summary:Postnuclear fractions from rat liver and kidney oxidize L-pipecolic acid, a by-product of lysine catabolism, in a hydrogen peroxide-producing reaction. This pipecolate oxidase 2 ) activity is enhanced in preparations from animals treated with clofibrate and thyroxine, substances know...

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“…In untreated patients thin-layer chromatography of plasma lipids reveals a triacylglycerol pattern composed of three fractions (19,20):…”

Section: Resultsmentioning

confidence: 99%