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.
K
K
Tanaka
M
M
Shimada
T
T
Naruto
H
H
Yamamoto
Y
Y
Saeki
H
H
Sai
G
G
Hirose
D000293:Adolescent; D000326:Adrenoleukodystrophy / Q000235:genetics / Q000378:metabolism*; D000328:Adult; D002648:Child; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000378:metabolism*; D004910:Erythrocyte Membrane / Q000032:analysis*; D005227:Fatty Acids / Q000032:analysis* / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D013109:Sphingomyelins / Q000032:analysis / Q000235:genetics
D005227:Fatty Acids; D013109:Sphingomyelins