INCREASED VERY LONG-CHAIN FATTY-ACIDS IN ERYTHROCYTE-MEMBRANES OF PATIENTS WITH ACERULOPLASMINEMIA

Aceruloplasminemia is a newly recognized autosomal recessive disorder of iron metabolism that causes neurodegeneration of the retina and bas al ganglia as well as diabetes mellitus. Our previous studies suggeste d that increased susceptibility to plasma lipid peroxidation secondary to iron accumulation may contribute to the pathogenesis in this disea se. We now have identified increases in the very long-chain fatty acid s cis-17-hexacosenoic (C26:1) and hexacosanoic (C26:0) acid in the ery throcyte membranes of three family members affected with aceruloplasmi nemia. All of them had elevated C26:1/C22:0 and C26:0/C22:0 ratios. Th ese findings suggest that free radicals generated in persons with acer uloplasminemia may interrupt the peroxisomal beta-oxidation of fatty a cids.