title: Very long chain fatty acids in genetic peroxisomal disease fibroblasts: differences between the cerebro-hepato-renal (Zellweger) syndrome and adrenoleukodystrophy variants.
abstract: Very long chain fatty acids were investigated by gas chromatography in fibroblasts of patients with genetic peroxisomal diseases (cerebro-hepato-renal (Zellweger) syndrome, childhood adrenoleukodystrophy, adrenomyeloneuropathy, neonatal adrenoleukodystrophy) and of controls. Concentrations of C 26:0 were increased to about the same extent in all disorders investigated. C 26:1 concentrations, on the other hand, were considerably elevated only in the cerebro-hepato-renal syndrome. In all control, adrenoleukodystrophy, and adrenomyeloneuropathy cases the C 22:0 concentration was higher than the respective C 26:0 concentration; the reverse was found in the cerebro-hepato-renal syndrome. These differences seem to reflect different impairment of peroxisomes in the cerebro-hepato-renal syndrome and adrenoleukodystrophy variants, respectively. Additional experiments to characterize C 26:1 by thin layer chromatography, gas chromatography and mass spectrometry revealed the presence of two straight-chain C 26:1 isomers with similar fragmentation patterns.
mesh_terms: D000015:Abnormalities, Multiple / Q000378:metabolism*; D000326:Adrenoleukodystrophy / Q000378:metabolism*; D002648:Child; D002855:Chromatography, Thin Layer; D002869:Chromosome Aberrations / Q000378:metabolism*; D025063:Chromosome Disorders; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000378:metabolism*; D004952:Esters / Q000032:analysis; D005227:Fatty Acids / Q000032:analysis*; D005347:Fibroblasts / Q000032:analysis; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D007231:Infant, Newborn; D007536:Isomerism
chemical_list: D004952:Esters; D005227:Fatty Acids