| Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency. | |
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MedLine Citation:
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PMID: 20600873 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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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:
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Type: Journal Article Date: 2010-06-18 |
Journal Detail:
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Title: Biochimica et biophysica acta Volume: 1802 ISSN: 0006-3002 ISO Abbreviation: Biochim. Biophys. Acta Publication Date: 2010 Nov |
Date Detail:
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Created Date: 2010-09-20 Completed Date: 2010-12-10 Revised Date: 2011-08-01 |
Medline Journal Info:
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Nlm Unique ID: 0217513 Medline TA: Biochim Biophys Acta Country: Netherlands |
Other Details:
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Languages: eng Pagination: 1028-35 Citation Subset: IM |
Copyright Information:
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Copyright © 2010 Elsevier B.V. All rights reserved. |
Affiliation:
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Radboud University Nijmegen Medical Centre, Department of Laboratory Medicine, Laboratory of Genetic Endocrine and Metabolic Diseases, Nijmegen, The Netherlands. u.engelke@labgk.umcn.nl |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Animals Biological Markers / urine* Butyric Acids / 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:
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R01 AI072648-01A2/AI/NIAID NIH HHS; R01 DK049221-04A2/DK/NIDDK NIH HHS; R01 DK078922-01A2/DK/NIDDK NIH HHS; R01 DK078922-02/DK/NIDDK NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Biological Markers; 0/Butyric Acids; 0/Fumarates; 0/Heptoses; 0/Ketoglutaric Acids; 0/Sugar Alcohols; 0/erythronic acid; 110-17-8/fumaric acid; 2152-56-9/arabitol; 3019-74-7/sedoheptulose; 328-50-7/alpha-ketoglutaric acid; 488-81-3/Ribitol; EC 2.2.1.2/Transaldolase |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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