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

@article{Nishio1986ASM,
  title={A simple method to diagnose adrenoleukodystrophy using a dried blood spot on filter paper.},
  author={Hisahide Nishio and S Kodama and Sumiyoshi Yokoyama and Tamotsu Matsuo and Takaya Mio and Kimiaki Sumino},
  journal={Clinica chimica acta; international journal of clinical chemistry},
  year={1986},
  volume={159 1},
  pages={
          77-82
        }
}
  • H. Nishio, S. Kodama, +3 authors K. Sumino
  • Published 30 August 1986
  • Medicine
  • Clinica chimica acta; international journal of clinical chemistry
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… Expand
Very long chain fatty acid analysis of dried blood spots on filter paper to screen for adrenoleukodystrophy.
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The capacity to identify the adrenoleukodystrophy hemizygote prenatally together with the availability of tests of plasma and/or cultured skin fibroblasts, which can identify most women heterozygote for this disorder, provide the opportunity for families at risk for ALD to have normal children. Expand
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This type of fatty acid abnormality has not been described in other pathological conditions and may well represent the unique biochemical abnormality that is directly related to the fundamental genetic defect underlying adrenoleukodystrophy. Expand
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TLDR
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TLDR
With a new method, saturated very long chain fatty acids in the plasma of adrenoleukodystrophy (ALD) hemizygotes, ALD heterozygotes, and controls are measured, showing increased levels of hexacosanoate (C26 fatty acid) which represented 0.081 ± 0.0066% of total fatty acids. Expand
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