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Arteriovenous Metabolomics to Measure In Vivo Metabolite Exchange in Brown Adipose Tissue
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Differences between acylcarnitine profiles in plasma and bloodspots.

Monique G M de Sain-van der Velden1, Eugene F Diekman, Judith J Jans

  • 1Department of Medical Genetics, UMC Utrecht, The Netherlands Wilhelmina Children's Hospital, University Medical Centre (UMC) Utrecht, Utrecht, The Netherlands. m.g.desain@umcutrecht.nl

Molecular Genetics and Metabolism
|May 4, 2013
PubMed
Summary

Acylcarnitine analysis in plasma and dried blood spots (DBS) can miss inborn errors of metabolism (IEM). Using acylcarnitine ratios improves diagnosis for CPT-1 and CPT-2 deficiencies, especially in plasma.

Keywords:
AcylcarnitinesCPT-1CPT-2DBSsDried blood spotFatty acid oxidation disordersGA-IIEMLCHADMCADMMAOrganic aciduriasPARatiosVLCADcarnitine palmitoyltransferase 1carnitine palmitoyltransferase 2dried blood spotsglutaric acidemia Iinborn error of metabolismlong-chain 3-hydroxyacyl-CoA dehydrogenasemedium-chain acyl-CoA dehydrogenasemethylmalonic acidemiapropionic acidemiavery-long-chain acyl-CoA dehydrogenaseβ-ketothiolaseβKT

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Area of Science:

  • Biochemistry
  • Clinical Chemistry
  • Metabolomics

Background:

  • Acylcarnitine quantification is crucial for diagnosing inborn errors of metabolism (IEM).
  • Newborn screening typically uses dried blood spots (DBS), while general investigations often use plasma.
  • Data correlating acylcarnitine profiles between plasma and DBS is limited.

Purpose of the Study:

  • To directly compare acylcarnitine concentrations between plasma and DBS.
  • To evaluate the utility of acylcarnitine ratios in plasma and DBS for diagnosing IEM when primary markers are inconclusive.

Main Methods:

  • Collected DBS and plasma samples from controls and patients with known IEM.
  • Analyzed (acyl)carnitines after conversion to butyl esters using High-Performance Liquid Chromatography/tandem Mass Spectrometry (HPLC/MS/MS).

Main Results:

  • Free carnitine levels were higher in plasma than DBS.
  • Carnitine palmitoyltransferase 1 (CPT-1) deficiency showed higher free carnitine in DBS compared to plasma.
  • Carnitine palmitoyltransferase 2 (CPT-2) deficiency primary markers were sometimes normal in DBS but abnormal in plasma.
  • Acylcarnitine ratios aided diagnosis in plasma but were less reliable for CPT-2 in DBS.

Conclusions:

  • Primary acylcarnitine markers can lead to missed diagnoses of CPT-1 in plasma and CPT-2 in DBS.
  • Ratios of acylcarnitines improve diagnostic accuracy for CPT-1 and CPT-2 in plasma.
  • Diagnosis of CPT-2 deficiency using DBS may still be challenging even with ratio analysis.