Adrenoleukodystrophy: abnormality of "tightly bound" fatty acids in the erythrocyte membrane proteins.
"Tightly bound" and "loosely bound" fatty acids in erythrocyte membranes were analyzed in three patients with adrenoleukodystrophy, three probable carriers, and eight controls. The ratios of C28:0 or C26:0 to C22:0 or C20:0 in the tightly bound fatty acids of three patients were significantly higher than those of controls, and the ratios in two of three probable carriers were higher than those in controls. The ratios of C26:0 to C22:0 or C20:0 in the loosely bound fatty acids of three patients and three probable carriers were also significantly higher than those of controls. Since tightly bound fatty acids in membrane proteins are found not only in erythrocyte membranes but also in myelin proteins, the abnormality of tightly bound fatty acids may be related to the demyelination in adrenoleukodystrophy.
D000293:Adolescent; D000326:Adrenoleukodystrophy / Q000378:metabolism*; D000328:Adult; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000378:metabolism*; D004910:Erythrocyte Membrane / Q000378:metabolism*; D005227:Fatty Acids / Q000378:metabolism*; D005260:Female; D006801:Humans; D008297:Male
D005227:Fatty Acids