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Metabolites of the Pentose Phosphate Pathway

  • Mirjam M. C. Wamelink,
  • Desirée E. C. Smith

摘要

Measurements of sugars and polyols in urine, plasma, or CSF with gas chromatography (GC) or liquid chromatography–tandem mass spectrometry (LC-MS/MS) can be key to diagnose defects in the non-oxidative part of the pentose phosphate pathway, galactose metabolism, fructose metabolism, and glucuronic acid oxidation pathway. We describe a GC-flame ionization detection (FID) method for measurement of sugars and polyols and LC-MS/MS methods for measuring polyols of heptuloses.