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

Abstract:

: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.

journal_name

J Neurol

journal_title

Journal of neurology

authors

Kobayashi T,Katayama M,Suzuki S,Tomoda H,Goto I,Kuroiwa Y

doi

10.1007/BF00313696

subject

Has Abstract

pub_date

1983-01-01 00:00:00

pages

209-15

issue

4

eissn

0340-5354

issn

1432-1459

journal_volume

230

pub_type

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