Very long chain fatty acids in genetic peroxisomal disease fibroblasts: differences between the cerebro-hepato-renal (Zellweger) syndrome and adrenoleukodystrophy variants
| Autor: | Brunhilde Molzer, Christian Wolf, H. Bernheimer, Marina Korschinsky, Adelbert Roscher, Rainer Schmid |
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| Rok vydání: | 1986 |
| Předmět: |
medicine.medical_specialty
Clinical Biochemistry Chromosome Disorders Cerebro Biochemistry Cerebrohepatorenal syndrome Gas Chromatography-Mass Spectrometry Isomerism Internal medicine Peroxisomal disorder medicine Humans Abnormalities Multiple Adrenoleukodystrophy Child Chromosome Aberrations Zellweger syndrome Chemistry Biochemistry (medical) Fatty Acids Infant Newborn Diffuse Cerebral Sclerosis of Schilder Esters General Medicine Peroxisome Fibroblasts medicine.disease Thin-layer chromatography Endocrinology Chromatography Thin Layer Neonatal adrenoleukodystrophy |
| Zdroj: | Clinica chimica acta; international journal of clinical chemistry. 161(1) |
| ISSN: | 0009-8981 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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