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

  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},
  volume={159 1},
  • 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.
Screening for ALD, especially in the presymptomatic stage, will be important when these therapeutic methods are established, as in the cases of phenylketonuria or maple syrup urine disease. Expand
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
  • D. Johnson
  • Chemistry, Medicine
  • Journal of Inherited Metabolic Disease
  • 2004
Blood spots collected from four peroxisomal patients between 2 and 10 days after birth and stored for up to 17 years, were shown to give between 33% and 233% higher C26:0/C22:0 ratios compared to age-matched controls. Expand
Quantitating fatty acids in dried blood spots on a common collection card versus a novel wicking sampling device.
Quantitative fatty acid determinations of dried blood spots are possible and should be reported along with relative percentage data to improve interpretation in the future. Expand
Application of dried blood spot for analysis of low molecular weight fraction (metabolome) of blood
The metabolomic blood analysis can be used in clinical laboratory practice to improve the efficiency of diagnostics and risk assessment of diseases, since the current clinical diagnostics is not ableExpand
The use of mass spectrometry to analyze dried blood spots.
An overall view of all instrumental and methodological developments for DBS analysis with mass spectrometric detection, with and without separation techniques is presented. Expand
Evaluation of contamination associated with current blood spot technology for determining the fatty acid status of individuals
A newly developed method for determining fatty acid status in samples of whole blood using collection papers was evaluated. Fresh blood was analyzed either directly or after being applied to a stripExpand
Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls
VLCFA levels were increased in all patients homozygous for Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum's disease, and in patients with deficiencies of peroxisomal acyl‐coenzyme A oxidase, bifunctional enzyme, and 3‐oxoacyl‐coENzyme A thiolase. Expand
A convenient method for determination of the C20–22 PUFA composition of glycerolipids in blood and breast milk
The method was applicable to the analysis of a large number of blood and breast milk samples, and the arachidonate/(eicosapentaenoate +docosahexaenoate) ratios could be determined rapidly. Expand
Simple and rapid analytical method for detection of amino acids in blood using blood spot on filter paper, fast-GC/MS and isotope dilution technique.
This method was applied to blood spot samples obtained from patients with phenylketonuria, maple syrup urine disease (MSUD), hypermethionine and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), and the analysis results showed that the concentrations of amino acids that characterize these diseases were increased. Expand
Advantages and Challenges of Dried Blood Spot Analysis by Mass Spectrometry Across the Total Testing Process
DBS analysis using MS applications is now broadly applied, with drug monitoring for both therapeutic and toxicological analysis being the most extensively reported. Expand


The Prenatal Diagnosis of Adrenoleukodystrophy. Demonstration of Increased Hexacosanoic Acid Levels in Cultured Amniocytes and Fetal Adrenal Gland
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
Fatty acid abnormality in adrenoleukodystrophy.
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
Abnormality of Long‐Chain Fatty Acids in Erythrocyte Membrane Sphingomyelin from Patients with Adrenoleukodystrophy
An analytical method for the determination of fatty acid composition of erythrocyte membrane sphingomyelin by chemical ionization mass spectrometry combined with capillary column gas‐liquid chromatography demonstrates that biochemical abnormality in ALD is the generalized abnormal metabolism of very long‐chain saturated fatty acids. Expand
Adrenoleukodystrophy: Increased plasma content of saturated very long chain fatty acids
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
High concentration of hexacosanoate in cultured skin fibroblast lipids from adrenoleukodystrophy patients.
Cultured skin fibroblasts from nine patients with the clinical diagnosis of adrenoleukodystrophy and 16 control individuals were studied for fatty acid compositions, showing a high content of hexacosanoic acid and a higher ratio of 26:0 to 22:0 acids. Expand
Adrenoleukodystrophy: clinical and biochemical manifestations in carriers.
Any woman at risk in an ALD kinship, and who demonstrates a spastic paraparesis, should be assumed to be a carrier until biochemical testing is obtained, and measurement of plasma VLCFA levels should be done initially. Expand
Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts
Postmortem brain and adrenal tissue from patients with adrenoleukodystrophy or adrenomyeloneuropathy have been shown to contain abnormally large amounts of very long chain fatty acids, and cultured skin fibroblasts were searched for such an abnormality. Expand
Adrenoleukodystrophy: abnormality of very long-chain fatty acids in erythrocyte membrane phospholipids.
HPLC chromatograms suggest that ALD has a generalized abnormal metabolism of very long-chain saturated fatty acids. Expand
Adrenoleukodystrophy. A clinical and pathological study of 17 cases.
Morphological analysis of the cerebral lesion indicates that the destruction may spread in a caudal-rostral direction, and the intense inflammatory cell response occurs within the demyelinated areas, and appears to be a secondary feature of white matter degeneration. Expand