Journal of Inherited Metabolic Disease

, 30:735

Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine

Authors

    • Metabolic Unit, Department of Clinical ChemistryVU University Medical Center
  • D. E. Smith
    • Metabolic Unit, Department of Clinical ChemistryVU University Medical Center
  • E. E. Jansen
    • Metabolic Unit, Department of Clinical ChemistryVU University Medical Center
  • N. M. Verhoeven
    • Metabolic Unit, Department of Clinical ChemistryVU University Medical Center
  • E. A. Struys
    • Metabolic Unit, Department of Clinical ChemistryVU University Medical Center
  • C. Jakobs
    • Metabolic Unit, Department of Clinical ChemistryVU University Medical Center
Original Article

DOI: 10.1007/s10545-007-0590-2

Cite this article as:
Wamelink, M.M., Smith, D.E., Jansen, E.E. et al. J Inherit Metab Dis (2007) 30: 735. doi:10.1007/s10545-007-0590-2

Summary

Transaldolase deficiency, a recently discovered disorder of carbohydrate metabolism with multisystem involvement, has been diagnosed in 6 patients. Affected patients have abnormal concentrations of polyols in body fluids and in all patients we have previously found increased amounts of a seven-carbon chain carbohydrate which we suspected of being sedoheptulose. We report development of a liquid chromatography-tandem mass spectrometry method for quantitation of the seven-carbon carbohydrates sedoheptulose and mannoheptulose in urine. Additionally, other seven-carbon chain carbohydrates were characterized in urine, including sedoheptitol, perseitol and sedoheptulose 7-phosphate. Transaldolase-deficient patients had significantly increased urinary sedoheptulose and sedoheptulose 7-phosphate, associated with subtle elevations of mannoheptulose, sedoheptitol and perseitol. Our findings reveal novel urinary biomarkers for identification of transaldolase deficiency.

Copyright information

© SSIEM and Springer 2007