| First Author | Engelke UF | Year | 2010 |
| Journal | Biochim Biophys Acta | Volume | 1802 |
| Issue | 11 | Pages | 1028-35 |
| PubMed ID | 20600873 | Mgi Jnum | J:170022 |
| Mgi Id | MGI:4943809 | Doi | 10.1016/j.bbadis.2010.06.007 |
| Citation | Engelke UF, et al. (2010) Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency. Biochim Biophys Acta 1802(11):1028-35 |
| abstractText | BACKGROUND: Sedoheptulose, arabitol, ribitol, and erythritol have been identified as key diagnostic metabolites in TALDO deficiency. METHOD: Urine from 6 TALDO-deficient patients and TALDO-deficient knock-out mice were analyzed using (1)H-NMR spectroscopy and GC-mass spectrometry. RESULTS: Our data confirm the known metabolic characteristics in TALDO-deficient patients. The beta-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. CONCLUSION: 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. |
