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Tanaka, K. et al.

Very long-chain fatty acids in erythrocyte membrane sphingomyelin: detection of ALD hemizygotes and heterozygotes.

We used mass fragmentography to analyze a very long-chain fatty acid composition of erythrocyte membrane sphingomyelin. The content of hexacosanoic acid (C26:0), tetracosanoic acid (C24:0) and docosanoic acid (C22:0) in adrenoleukodystrophy ( ALD) hemizygotes and heterozygotes was significantly higher than in controls. Although the ratio of C26:0 to C22:0 in 18 of the 46 controls was in the range of ALD heterozygotes, the absolute content of C26:0 and C24:0 in controls did not overlap with ALD hemizygotes or heterozygotes. The content of C26:0 and C24:0 is more reliable for detection of ALD hemizygotes and heterozygotes than the ratio of C26:0 to C22:0 when red cell sphingomyelin is used for diagnosis.[1]

References

Very long-chain fatty acids in erythrocyte membrane sphingomyelin: detection of ALD hemizygotes and heterozygotes. Tanaka, K., Shimada, M., Naruto, T., Yamamoto, H., Saeki, Y., Sai, H., Hirose, G. Neurology (1986) [Pubmed]

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