Abstract
The aim of the present study was to examine the fatty acid patterns of plasma phospholipids, cholesteryl esters, triglycerides and free fatty acids in patients with Sjögren-Larsson syndrome in order to detect whether absorption or metabolism of essential fatty acids may be abnormal. The fatty acid patterns were analyzed by gas liquid chromatography. The proportions of 23 fatty acids were calculated. The parameters used for assessment of the essential fatty acid metabolic status were calculated and compared with those from a group of institutionalized mentally retarded patients and from a group of healthy controls. There was no significant difference in either the fatty acid components or parameters used to evaluate the essential fatty acid metabolic study when the mentally retarded and control groups were compared. The relative concentration of linoleic acid (18:2ω6) in plasma phospholipids in patients with Sjögren-Larsson syndrome did not differ significantly from that of the healthy or mentally retarded controls, indicating that the Sjögren-Larsson syndrome does not involve a dietary essential fatty acid deficiency or a defect in absorption of linoleate. In the phospholipids of Sjögren-Larsson syndrome patients, the metabolites derived from linoleic acid were found to be significantly lower than in healthy controls, suggesting a metabolic defect. The total products of δ6 desaturation were reduced to 3% of that in controls, whereas the products of δ5 and δ9 desaturation were not noticeably affected in patients with Sjögren-Larsson syndrome. All individuals with Sjögren-Larsson syndrome exhibited decreased products of δ6 desaturation which also affected subsequent metabolites in the metabolic sequence.
Speculation: Fatty acid patterns of plasma phospholipids could be used to distinguish between Sjogren-Larsson syndrome and a syndrome of congenital ichthyosis with mental retardation in which spasticity does not develop.
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Hernell, O., Holmgren, G., Jagell, S. et al. Suspected Faulty Essential Fatty Acid Metabolism in Sjögren-Larsson Syndrome. Pediatr Res 16 (Suppl 1), 45–49 (1982). https://doi.org/10.1203/00006450-198201001-00009
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DOI: https://doi.org/10.1203/00006450-198201001-00009