Abstract
The peroxisomes are subcellular organelles with a variety of biochemical functions, amongst which a system for beta-oxidation of very long-chain (C22-C26) fatty acids (VLCFA) and a system for alpha-oxidation of branched-chain fatty acids such as phytanic acid. The plasma concentrations of the VLCFA as well as those of phytanic acid and its immediate metabolite pristanic acid are important biomarkers for the assessment of peroxisomal dysfunction. A gas chromatography / mass spectrometry analysis of the tertiarybutyl-dimethylsilyl esters of the afore mentioned acids, using stable isotope labeled internal standards, is the method of choice for the diagnosis of peroxisome biogenesis defects (Zellweger spectrum patients) as well as isolated peroxisomal enzyme defects such as X-linked adrenoleucodystrophy, D-bifunctional protein deficiency and Refsum disease, amongst others. This approach is equally well suited for therapy monitoring of treatable disorders.
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Wanders, R., Duran, M. (2008). Very-Long-Chain Fatty Acids and Phytanic Acid. In: Blau, N., Duran, M., Gibson, K. (eds) Laboratory Guide to the Methods in Biochemical Genetics. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-76698-8_12
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DOI: https://doi.org/10.1007/978-3-540-76698-8_12
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