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

ABSTRACT:

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 ¹H-NMR spectroscopy and GC-mass spectrometry.

Results

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 i

SUBMITTER: Engelke UF 

PROVIDER: S-EPMC3117462 | biostudies-literature | 2010 Nov

REPOSITORIES: biostudies-literature