Document Detail

4,5-dimethyl-3-hydroxy-2[5H]-furanone (sotolone)--the odour of maple syrup urine disease.
MedLine Citation:
PMID:  10234605     Owner:  NLM     Status:  MEDLINE    
Maple syrup urine disease is an autosomal recessive inherited disorder of branched-chain amino acid metabolism due to deficiency of the branched-chain alpha-keto acid dehydrogenase complex. The disease was originally named after the characteristic sweet aroma, reminiscent of maple syrup, present in the body fluids of affected patients. Until now, the substance responsible for the odour has not been positively identified. Using enantioselective multidimensional gas chromatography-mass spectrometry (enantio-MDGC-MS), we could demonstrate that 4,5-dimethyl-3-hydroxy-2[5H]-furanone (sotolone), a well-known flavour impact compound present in fenugreek and lovage, was present in urine from seven patients with maple syrup urine disease. Urine samples from healthy control persons lacked sotolone. We have shown that sotolone is responsible for the characteristic odour of maple syrup urine disease and, since maple syrup also contains sotolone, the naming of this disease appears to be correct.
F Podebrad; M Heil; S Reichert; A Mosandl; A C Sewell; H Böhles
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  22     ISSN:  0141-8955     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  1999 Apr 
Date Detail:
Created Date:  1999-07-29     Completed Date:  1999-07-29     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:  107-14     Citation Subset:  IM    
Institute of Food Chemistry, University of Frankfurt, Frankfurt am Main, Germany.
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MeSH Terms
Furans / chemistry,  urine*
Maple Syrup Urine Disease / urine*
Molecular Structure
Reg. No./Substance:
0/Furans; 28664-35-9/4,5-dimethyl-3-hydroxy-2(5H)-furanone

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

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