Adrenoleukodystrophy: detection of increased very long chain fatty acids by high-performance liquid chromatography

Using high-performance liquid chromatography, adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN) were diagnosed by the analysis of fatty acids in sphingomyelin. The analytical method was simple, sensitive and accurate. In ALD and AMN patients, very long chain fatty acids (C26:0, C25:0 and C24:0 on the base of C22:0) were elevated not only in plasma and erythrocyte membranes but also in whole blood samples. An increase of long chain fatty acids was also shown in sphingomyelin of cultured skin fibroblasts. One heterozygote for ALD showed intermediate values between homozygotes and controls. Thus, high-performance liquid chromatography is a valuable method to detect increased long chain fatty acids for the diagnosis of ALD or AMN.