Suspected faulty essential fatty acid metabolism in Sjögren-Larsson syndrome.
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 is 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 (18:2 omega 6) 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 Sjörgren-Larsson syndrome patients, the metabolites derived from linoleic acid were found to be significantly lower than in health controls, suggesting the 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 the patients with Sjögren-Larsson syndrome. All individuals with Sjörgren-Larsson syndrome exhibited decreased products of delta 6 desaturation which also affected subsequent metabolites in the metabolite sequence.
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D002788:Cholesterol Esters / Q000097:blood; D003937:Diagnosis, Differential; D005228:Fatty Acids, Essential / Q000378:metabolism*; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000175:diagnosis / Q000378:metabolism*; D008607:Intellectual Disability / Q000175:diagnosis / Q000378:metabolism*; D008297:Male; D008875:Middle Aged; D010743:Phospholipids / Q000097:blood; D013577:Syndrome; D014280:Triglycerides / Q000097:blood
D002788:Cholesterol Esters; D005228:Fatty Acids, Essential; D010743:Phospholipids; D014280:Triglycerides