Document Detail

A simple method to diagnose adrenoleukodystrophy using a dried blood spot on filter paper.
MedLine Citation:
PMID:  3757269     Owner:  NLM     Status:  MEDLINE    
A new, simple method for the diagnosis of adrenoleukodystrophy (ALD) using a dried blood spot sample, is described. Fatty acid from the dried blood spot was extracted and methylated simultaneously with HCl-methanol. Fatty acid methyl esters were analyzed by gas chromatography-mass spectrometry. Fatty acid compositions of the blood spot from four patients with ALD and five healthy controls were determined from the mass chromatograms of the m/z 143 ion, [(CH2)6 COOCH3]+. The ratios of tetracosanoic acid to docosanoic acid (C24:0/C22:0) and hexacosanoic acid to docosanoic acid (C26:0/C22:0) were significantly greater in ALD patients than in the controls. 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 ALD.
H Nishio; S Kodama; S Yokoyama; T Matsuo; T Mio; K Sumino
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Clinica chimica acta; international journal of clinical chemistry     Volume:  159     ISSN:  0009-8981     ISO Abbreviation:  Clin. Chim. Acta     Publication Date:  1986 Aug 
Date Detail:
Created Date:  1986-11-14     Completed Date:  1986-11-14     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  1302422     Medline TA:  Clin Chim Acta     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  77-82     Citation Subset:  IM    
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MeSH Terms
Adrenoleukodystrophy / blood,  diagnosis*
Diffuse Cerebral Sclerosis of Schilder / diagnosis*
Fatty Acids / blood
Filtration / instrumentation
Gas Chromatography-Mass Spectrometry
Specimen Handling
Reg. No./Substance:
0/Fatty Acids

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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