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Title: The deficient degradation of synthetic 2-methyl-branched and 3-methyl-branched fatty-acids in fibroblasts from patients with peroxisomal disorders
Authors: Van Veldhoven, Paul P ×
Huang, S
Eyssen, Hendrik
Mannaerts, Guy #
Issue Date: 1993
Publisher: MTP Press
Series Title: Journal of Inherited Metabolic Disease vol:16 issue:2 pages:381-391
Conference: - date:-
Abstract: The oxidation of pristanic and phytanic acids by human skin fibroblasts was compared to that of their synthetic analogues, 2-methylpalmitic and 3-methylmargaric acids. The synthetic compounds and natural substrates were degraded at comparable rates in control and X-linked adrenoleukodystrophy fibroblasts. The alpha-decarboxylation of 3-methylmargaric acid, similarly to that of phytanic acid, was affected in Refsum disease and Zellweger syndrome, but not in X-linked adrenoleukodystrophy. The beta-oxidation of 2-methylpalmitic acid, similarly to that of pristanic acid, was deficient in fibroblasts derived from patients suffering from Zellweger syndrome, confirming the importance of peroxisomes in the breakdown of 2-methyl-branched fatty acids. No deficiency was observed in fibroblasts from X-linked adrenoleukodystrophy patients. The 1-C-14-labelled 2- and 3-methyl-branched fatty acids, which are easier to synthesize that the natural analogues, are therefore valuable tools for the diagnosis of human peroxisomal disorders.
ISSN: 0141-8955
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Laboratory of Lipid Biochemistry and Protein Interactions
× corresponding author
# (joint) last author

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