Document Detail

Stereoselective analysis of 2-hydroxysebacic acid in urine of patients with Zellweger syndrome and of premature infants fed with medium-chain triglycerides.
MedLine Citation:
PMID:  14605504     Owner:  NLM     Status:  MEDLINE    
The chiral metabolite 2-hydroxysebacic acid (2-HS) is considered to be an important diagnostic marker for peroxisomal disorders. The pathway of formation of 2-HS, excreted in increased amounts in patients with peroxisomal diseases, is not absolutely clear. Moreover, there is no information about the enantiomeric distribution of 2-HS in human urine. Here, we describe the stereodifferentiation of 2-HS in urine samples of nine patients with Zellweger syndrome (ZS), and for the first time in urine samples of premature infants fed a medium-chain triglyceride (MCT)-containing diet. Using enantioselective multidimensional gas chromatography-mass spectrometry, an increased excretion of 2R-HS was observed in all investigated ZS patients. 2-HS was also present in urine samples of premature infants fed MCT. Analogously to the ZS patients, a dominant 2R-HS excretion in the urine samples of the premature infants was identified. The formation of 2-HS is expected to result from the same or similar pathways as described for ZS patients. Additionally, we determined the absolute configuration of urinary 3-hydroxysebacic acid (3-HS) in the cases investigated. The enantioselective analysis provides further information for the diagnosis and treatment of patients with impaired peroxisomal fatty acid oxidation. Further insight into the metabolic origin and the biochemical pathway leading to these urinary metabolites is provided.
A Muth; A Mosandl; R J A Wanders; M J M Nowaczyk; I Baric; H Böhles; A C Sewell
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  26     ISSN:  0141-8955     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  2003  
Date Detail:
Created Date:  2003-11-10     Completed Date:  2004-06-17     Revised Date:  2007-03-21    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  583-92     Citation Subset:  IM    
Institute of Food Chemistry, University of Frankfurt, Frankfurt am Main, Germany.
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MeSH Terms
Child, Preschool
Chromatography, Gas
Decanoic Acids / urine*
Hydroxy Acids / urine*
Infant, Newborn
Infant, Premature / urine*
Mass Spectrometry
Triglycerides / therapeutic use*
Zellweger Syndrome / diet therapy*,  urine*
Reg. No./Substance:
0/Decanoic Acids; 0/Hydroxy Acids; 0/Triglycerides; 103963-71-9/2-hydroxysebacic acid

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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