Document Detail


Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency.
MedLine Citation:
PMID:  20600873     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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 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.
Authors:
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
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Publication Detail:
Type:  Journal Article     Date:  2010-06-18
Journal Detail:
Title:  Biochimica et biophysica acta     Volume:  1802     ISSN:  0006-3002     ISO Abbreviation:  Biochim. Biophys. Acta     Publication Date:  2010 Nov 
Date Detail:
Created Date:  2010-09-20     Completed Date:  2010-12-10     Revised Date:  2013-05-20    
Medline Journal Info:
Nlm Unique ID:  0217513     Medline TA:  Biochim Biophys Acta     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  1028-35     Citation Subset:  IM    
Copyright Information:
Copyright © 2010 Elsevier B.V. All rights reserved.
Affiliation:
Radboud University Nijmegen Medical Centre, Department of Laboratory Medicine, Laboratory of Genetic Endocrine and Metabolic Diseases, Nijmegen, The Netherlands. u.engelke@labgk.umcn.nl
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Animals
Biological Markers / urine*
Butyrates / chemistry,  urine*
Child, Preschool
Fumarates / chemistry,  urine
Gas Chromatography-Mass Spectrometry
Heptoses / chemistry,  urine
Humans
Infant
Infant, Newborn
Ketoglutaric Acids / chemistry,  urine
Magnetic Resonance Spectroscopy
Mice
Mice, Knockout
Mitochondria / metabolism*
Molecular Structure
Pentose Phosphate Pathway
Ribitol / chemistry,  urine
Sugar Alcohols / chemistry,  urine
Transaldolase / deficiency*,  genetics
Grant Support
ID/Acronym/Agency:
R01 AI072648-01A2/AI/NIAID NIH HHS; R01 DK049221-04A2/DK/NIDDK NIH HHS; R01 DK078922/DK/NIDDK NIH HHS; R01 DK078922-01A2/DK/NIDDK NIH HHS; R01 DK078922-02/DK/NIDDK NIH HHS
Chemical
Reg. No./Substance:
0/Biological Markers; 0/Butyrates; 0/Fumarates; 0/Heptoses; 0/Ketoglutaric Acids; 0/Sugar Alcohols; 0/erythronic acid; 3019-74-7/sedoheptulose; 328-50-7/alpha-ketoglutaric acid; 488-81-3/Ribitol; 88XHZ13131/fumaric acid; EC 2.2.1.2/Transaldolase; YFV05Y57M9/arabitol
Comments/Corrections

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