Literature DB >> 3757269

A simple method to diagnose adrenoleukodystrophy using a dried blood spot on filter paper.

H Nishio, S Kodama, S Yokoyama, T Matsuo, T Mio, K Sumino.   

Abstract

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.

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Year:  1986        PMID： 3757269     DOI： 10.1016/0009-8981(86)90169-5

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


  6 in total

1.  Diagnosis of Zellweger syndrome by analysis of very long-chain fatty acids in stored blood spots collected at neonatal screening.

Authors:  C Jakobs; C M van den Heuvel; F Stellaard; C Largillière; F Skovby; E Christensen
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

2.  A rapid screening procedure for the diagnosis of peroxisomal disorders: quantification of very long-chain fatty acids, as dimethylaminoethyl esters, in plasma and blood spots, by electrospray tandem mass spectrometry.

Authors:  D W Johnson
Journal:  J Inherit Metab Dis       Date:  2000-07       Impact factor: 4.982

3.  A convenient method for determination of the C20-22 PUFA composition of glycerolipids in blood and breast milk.

Authors:  Kenichi Ichihar; Kanako Waku; Chiaki Yamaguchi; Kazumi Saito; Akira Shibahara; Shuichi Miyatani; Kohei Yamamoto
Journal:  Lipids       Date:  2002-05       Impact factor: 1.880

Review 4.  Biomarkers for nutrient intake with focus on alternative sampling techniques.

Authors:  T Holen; F Norheim; T E Gundersen; P Mitry; J Linseisen; P O Iversen; C A Drevon
Journal:  Genes Nutr       Date:  2016-04-16       Impact factor: 5.523

5.  Advantages and Challenges of Dried Blood Spot Analysis by Mass Spectrometry Across the Total Testing Process.

Authors:  Rosita Zakaria; Katrina J Allen; Jennifer J Koplin; Peter Roche; Ronda F Greaves
Journal:  EJIFCC       Date:  2016-12-01

6.  Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor.

Authors:  Rinse W Barendsen; Inge M E Dijkstra; Wouter F Visser; Mariëlle Alders; Jet Bliek; Anita Boelen; Marelle J Bouva; Saskia N van der Crabben; Ellen Elsinghorst; Ankie G M van Gorp; Annemieke C Heijboer; Mandy Jansen; Yorrick R J Jaspers; Henk van Lenthe; Ingrid Metgod; Christiaan F Mooij; Elise H C van der Sluijs; A S Paul van Trotsenburg; Rendelien K Verschoof-Puite; Frédéric M Vaz; Hans R Waterham; Frits A Wijburg; Marc Engelen; Eugènie Dekkers; Stephan Kemp
Journal:  Front Cell Dev Biol       Date:  2020-06-17
  6 in total

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