Suspected Faulty Essential Fatty Acid Metabolism in Sj??gren-Larsson Syndrome

Abstract

The fatty acid patterns of plasma phospholipids, cholesteryl esters, triglycerides and free fatty acids in patients with Sjogren-Larsson syndrome were examined in order to detect whether absorption or metabolism of essential fatty acids may be abnormal. The fatty acid patterns were analyzed by GLC. 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 healty 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 (18:2 .omega. 6) in plasma phospholipids in patients with Sjogren-Larsson syndrome did not differ significantly from that of the healthy or mentally retarded controls, indicating that the Sjogren-Larsson syndrome does not involve a dietary essential fatty acid deficiency or a defect in absorption of linoleate. In the phospholipids of Sjogren-Larsson syndrome pateints, the metabolites derived from linoleic acid were significantly lower than in healthy controls, suggesting a metabolic defect. The total products of .DELTA.6 desaturation were reduced to 3% of that in controls, whereas the products of .DELTA.5 and .DELTA.9 desaturation were not noticeably affected in patients with Sjogren-Larsson syndrome. All individuals with Sjogren-Larsson syndrome exhibited decreased products of .DELTA.6 desaturation which also affected subsequent metabolites in the metabolic sequence.