Journal of Inherited Metabolic Disease

, Volume 28, Issue 6, pp 951–963

Analysis of polyols in urine by liquid chromatography–tandem mass spectrometry: A useful tool for recognition of inborn errors affecting polyol metabolism

  • M. M. C. Wamelink
  • D. E. C. Smith
  • C. Jakobs
  • N. M. Verhoeven
Article

DOI: 10.1007/s10545-005-0233-4

Cite this article as:
Wamelink, M.M.C., Smith, D.E.C., Jakobs, C. et al. J Inherit Metab Dis (2005) 28: 951. doi:10.1007/s10545-005-0233-4

Summary

Several inborn errors of metabolism with abnormal polyol concentrations in body fluids are known to date. Most of these defects can be diagnosed by the assessment of urinary concentrations of polyols. We present two methods using tandem mass spectrometry for screening for inborn errors affecting polyol metabolism. Urine samples supplemented with internal standards ([13C4]erythritol, [13C2]arabitol and [2H3]sorbitol) were desalted by a mixed-bed ion-exchange resin. Separation was achieved by two different columns. Sugar isomers could not be separated using a Prevail Carbohydrate ES 54 column (method 1), whereas with the other column (Aminex HPX-87C) separation of the isomers was achieved (method 2). Multiple reaction monitoring polyol detection was achieved by tandem mass spectrometry with an electron ion-spray source operating in the negative mode. Age-related reference ranges of polyols (erythritol, treitol, arabitol, ribitol, xylitol, galactitol, mannitol, sorbitol, sedoheptitol and perseitol) in urine were established. The applicability of the method was demonstrated by the abnormal polyol concentrations observed in patients with transaldolase deficiency, ribose-5-phosphate isomerase deficiency and classical galactosaemia. This paper describes two methods for the analysis of urinary polyols by liquid chromatography–tandem mass spectrometry. Method 1 is a fast screening method with the quantification of total isomers and method 2 is a more selective method with the separate quantification of the polyols. Both methods can be used for diagnosing inborn errors of metabolism affecting polyol metabolism.

Copyright information

© SSIEM and Springer 2005

Authors and Affiliations

  • M. M. C. Wamelink
    • 1
  • D. E. C. Smith
    • 1
  • C. Jakobs
    • 1
  • N. M. Verhoeven
    • 1
    • 2
  1. 1.Department of Clinical Chemistry, Metabolic UnitVU University Medical CenterAmsterdamThe Netherlands
  2. 2.Metabolic Unit, Department of Clinical ChemistryVU University Medical CenterHV AmsterdamThe Netherlands

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