Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency


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.

U.F. Engelke, F.S. Zijlstra, F. Mochel, V. Valayannopoulos, D. Rabier, L.A. Kluijtmans, A. Perl, N.M. Verhoeven-Duif, P. de Lonlay, M.M. Wamelink, C. Jakobs, E. Morava, R.A. Wevers
Authors from the NMC: 
2010; 1802 (11): 1028-1035
Published in: 
Biochimica et Biophysica Acta
Date of publication: 
November, 2010
Status of the publication: