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Detection of transaldolase deficiency by quantification of novel seven‐carbon chain carbohydrate biomarkers in urine
Author(s) -
Wamelink M. M.,
Smith D. E.,
Jansen E. E.,
Verhoeven N. M.,
Struys E. A.,
Jakobs C.
Publication year - 2007
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-007-0590-2
Subject(s) - transaldolase , urine , maple syrup urine disease , carbohydrate , biochemistry , pentose phosphate pathway , biology , chemistry , metabolism , amino acid , glycolysis , leucine
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.