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The deficient degradation of synthetic 2‐ and 3‐methyl‐branched fatty acids in fibroblasts from patients with peroxisomal disorders
Author(s) -
Van Veldhoven P. P.,
Huang S.,
Eyssen H. J.,
Mannaerts G. P.
Publication year - 1993
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf00710285
Subject(s) - phytanic acid , zellweger syndrome , adrenoleukodystrophy , peroxisomal disorder , peroxisome , biochemistry , decarboxylation , biology , chemistry , gene , catalysis
Summary 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 α‐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 β‐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‐ 14 C‐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.