Original Article

Journal of Inherited Metabolic Disease

, Volume 30, Issue 5, pp 735-742

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

  • M. M. WamelinkAffiliated withMetabolic Unit, Department of Clinical Chemistry, VU University Medical Center Email author 
  • , D. E. SmithAffiliated withMetabolic Unit, Department of Clinical Chemistry, VU University Medical Center
  • , E. E. JansenAffiliated withMetabolic Unit, Department of Clinical Chemistry, VU University Medical Center
  • , N. M. VerhoevenAffiliated withMetabolic Unit, Department of Clinical Chemistry, VU University Medical Center
  • , E. A. StruysAffiliated withMetabolic Unit, Department of Clinical Chemistry, VU University Medical Center
  • , C. JakobsAffiliated withMetabolic Unit, Department of Clinical Chemistry, VU University Medical Center

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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.