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

Clinica Chimica Acta; International Journal of Clinical Chemistry
H NishioK 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.

References

May 15, 1978·Biochemical and Biophysical Research Communications·N KawamuraY Kishimoto
Apr 1, 1976·Journal of Neurochemistry·M IgarashiK Suzuki
Jun 1, 1980·Annals of Neurology·H W MoserY Kishimoto

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Citations

Dec 1, 1988·Journal of the Neurological Sciences·R J WandersJ M Tager
Dec 3, 2014·Prostaglandins, Leukotrienes, and Essential Fatty Acids·Ge LiuRobert Alan Gibson
Sep 25, 2014·Mass Spectrometry Reviews·Michel WagnerGérard Hopfgartner
Jul 7, 2020·Frontiers in Cell and Developmental Biology·Rinse W BarendsenStephan Kemp

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Adrenoleukodystrophy

Adrenoleukodystrophy (ALD), the most frequent peroxisomal disorder, is an X-linked disorder caused by a defect in the metabolism of long chain fatty acids leading to demyelination, neurodegeneration, and death. Here is the latest research.