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

Udo F.H. Engelke (1) , Fokje S.M. Zijlstra (1) , Fanny Mochel (2) , Vassili Valayannopoulos (3) , Daniel Rabier (3) , Leo A.J. Kluijtmans (1) , András Perl (4) , Nanda M. Verhoeven-Duif (5) , Pascale de Lonlay (6) , Mirjam M.C. Wamelink (7) , Cornelis Jakobs (7) , Éva Morava (1) , Ron A. Wevers (1)

1 Department of Laboratory Medicine
2 CRICM - Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière
3 Department of Metabolic Disorders
4 Department of Medicine
5 Department of Metabolic and Endocrine Diseases
6 Centre de Référence des Maladies Héréditaires du Métabolisme
7 Department of Clinical Chemistry

Sedoheptulose, arabitol, ribitol and erythritol have been identified as key diagnostic metabolites in TALDO deficiency.

Mots clés: CSF; GC-MS; IEM; LC-MS; OMIM; PPP; RPI; TALDO; TLC; TSP; NMR spectroscopy; Citric acid cycle intermediates; Pentose phosphate pathway; Transaldolase deficiency; Polyols; Sedoheptulose; Erythronic acid; 2-oxoglutaric acid

Udo F.H. Engelke, Fokje S.M. Zijlstra, Fanny Mochel, Vassili Valayannopoulos, Daniel Rabier, et al.. Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency. Biochimica et Biophysica Acta - Molecular Basis of Disease, 2010, 1802 (11), pp.1028. ⟨10.1016/j.bbadis.2010.06.007⟩. ⟨hal-00623290⟩