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A Screening Method for Adrenoleukodystrophy Using a Dried Blood Spot on Filter Paper
Author(s) -
Nishio Hisahide,
Kodama Soichi,
Nakajima Toshihiro,
Matsuo Tamotsu,
Mio Takaya,
Sumino Kimiaki
Publication year - 1987
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1987.tb02246.x
Subject(s) - dried blood spot , adrenoleukodystrophy , medicine , fatty acid , peroxisome , chromatography , filter paper , newborn screening , biochemistry , chemistry , pediatrics , receptor
The authors have devised a new, simple method for the diagnosis of adrenoleukodystrophy (ALD) using a dried blood spot sample. Fatty acid from the dried blood spot was extracted and methylated with HCl‐methanol. Fatty acid methyl esters were analyzed by gas chromatography‐mass spectrometry. Fatty acid composition of the blood spot from five patients with ALD and from five healthy controls was determined from the mass chromatogram of the m/z 143 ion, [(CH 2 ) 6 COOCH 3 ]±. The ratios of tetracosanoic acid to docosanoic acid (C24:0/C22:0) and of hexacosanoic acid to docosanoic acid (C26:0/C22:0) were significantly greater in ALD patients than in controls. The C24:0/C22:0 ratios of ALD patients and of controls were 2.08 ± 0.33 and 1.47 ± 0.16 (mean ± SD), respectively. The C26:0/C22:0 ratios of ALD patients and of controls were 0.31 ± 0.024 and 0.092 ± 0.041, respectively. The fatty acid composition of the dried blood spot did not change at room temperature within a week. Since the specimens can be sent by mail, this method could be applied to the screening of other “peroxisomal” diseases, such as neonatal ALD and Zellweger syndrome, as well.