The deficient degradation of synthetic 2- and 3-methyl-branched fatty acids in fibroblasts from patients with peroxisomal disorders.

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 1-14C-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.

• Authors: P P Van Veldhoven, S Huang, H J Eyssen, G P Mannaerts
• Journal: Journal of inherited metabolic disease (J Inherit Metab Dis) Vol. 16 Issue 2 Pg. 381-91 ( 1993) ISSN: 0141-8955 [Print] United States
• PMID: 7692128 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Fatty Acids
• Palmitates
• Phytanic Acid
• 3-methylheptadecanoic acid
• pristanic acid
• methyl palmitate

Topics

• Adrenoleukodystrophy (genetics, metabolism)
• Cell Line
• Fatty Acids (chemistry, metabolism)
• Fibroblasts (metabolism)
• Humans
• Kinetics
• Microbodies (metabolism)
• Oxidation-Reduction
• Palmitates (metabolism)
• Phytanic Acid (metabolism)
• Refsum Disease (metabolism)
• X Chromosome
• Zellweger Syndrome (metabolism)