The deficient degradation of synthetic 2‐ and 3‐methyl‐branched fatty acids in fibroblasts from patients with peroxisomal disorders
Citations Over Time
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.
Related Papers
- → The deficient degradation of synthetic 2‐ and 3‐methyl‐branched fatty acids in fibroblasts from patients with peroxisomal disorders(1993)43 cited
- Phytanic acid and very long chain fatty acids in genetic peroxisomal disorders.(1989)
- [Peroxisomal neurologic diseases and Refsum disease: very long chain fatty acids and phytanic acid as diagnostic markers].(1992)
- Diagnosis of peroxisomal disorders with neurological involvement.(1993)
- [The diagnosis of peroxisomal disorders in Spain during the period 1987-1997].(1999)