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Sedoheptulose, arabitol, ribitol, and erythritol have been identified as key diagnostic metabolites in TALDO deficiency. Urine from 6 TALDO-deficient patients and TALDO-deficient knock-out mice were analyzed using ¹H-NMR spectroscopy and GC-mass spectrometry. Our data confirm the known metabolic characteristics in TALDO-deficient patients. The β-furanose form was the major sedoheptulose anomer in TALDO-deficient patients. Erythronic acid was identified as a major abnormal metabolite in all patients and in knock-out TALDO mice implicating an as yet unknown biochemical pathway in this disease. A putative sequence of enzymatic reactions leading to the formation of erythronic acid is presented. The urinary concentration of the citric acid cycle intermediates 2-oxoglutaric acid and fumaric acid was increased in the majority of TALDO-deficient patients but not in the knock-out mice. Erythronic acid is a novel and major hallmark in TALDO deficiency. The pathway leading to its production may play a role in healthy humans as well. In TALDO-deficient patients, there is an increased flux through this pathway. The finding of increased citric acid cycle intermediates hints toward a disturbed mitochondrial metabolism in TALDO deficiency. Copyright © 2010 Elsevier B.V. All rights reserved.


Udo F H Engelke, Fokje S M Zijlstra, Fanny Mochel, Vassili Valayannopoulos, Daniel Rabier, Leo A J Kluijtmans, András Perl, Nanda M Verhoeven-Duif, Pascale de Lonlay, Mirjam M C Wamelink, Cornelis Jakobs, Eva Morava, Ron A Wevers. Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency. Biochimica et biophysica acta. 2010 Nov;1802(11):1028-35

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PMID: 20600873

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