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With a newly devised method of high-performance liquid chromatography (HPLC), we scrutinized lipid extraction of very-long-chain fatty acids of cultured skin fibroblasts from obligate (n = 4) and possible (n = 3) carriers for adrenoleukodystrophy (ALD) in order to establish the best method to detect a carrier for the ALD gene. All four methods (total esterified fatty acids, total fatty acids with acetonitrile-HCl, total fatty acids with methanolic-HCl, and triacylglycerol fraction) were applicable to carrier detection, but from the standpoint of simplicity and sensitivity, the method using total fatty acids with acetonitrile-HCl seemed to be the best. This is the first study of ALD carrier detection in which cultured skin fibroblasts are investigated using HPLC as an analytical method.

The composition of "tightly bound fatty acids" and of loosely bound fatty acids in the erythrocyte membrane proteins from patients with myotonic dystrophy were compared with those of sex- and nearly age-matched normal controls. No significant differences could be detected in the composition of tightly bound fatty acids and there was no gross abnormality in the composition of loosely bound fatty acids between myotonic dystrophy patients and normal controls, although small differences were observed.

The plasmalogen ratio (defined as area ratio of lysophosphatidylethanolamine to the diacyl form of phosphatidylethanolamine) was investigated in cultured skin fibroblasts from neonatal adrenoleukodystrophy (N = 4) and X-linked recessive (N = 3) in addition to Zellweger syndrome (N = 3) because plasmalogen was reported to be reduced in Zellweger syndrome. The ratio was markedly decreased in all cases of Zellweger syndrome studied and in three of the four cases of neonatal adrenoleukodystrophy, whereas it was normal in the X-linked cases. This is the first documentation of a plasmalogen deficiency in neonatal adrenoleukodystrophy.