Clinical Chemistry
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Clinical Chemistry 29: 1834-1838, 1983;
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Clinical Chemistry, Vol 29, 1834-1838, Copyright © 1983 by American Association for Clinical Chemistry

Profiles of urinary volatiles from metabolic disorders characterized by unusual odors

DG Burke, B Halpern, D Malegan, E McCairns, D Danks, P Schlesinger and B Wilken

The profiles of urinary volatiles from patients with phenylketonuria, maple syrup urine disease, isovaleric acidemia, or trimethylaminuria (fish-odor syndrome) were in each case vastly different from the normal urinary volatiles profile. In the maple syrup urine disease case, metabolites that occur distal to the block were found and a mechanism for their formation is suggested. A new major metabolite in isovaleric acidemia was also found. As well as providing a reliable diagnostic tool for diseases characterized by odors, the analysis of urinary volatiles may provide information to help our understanding of still unexplained aspects of the diseases.


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 J. Environ. Qual.Home page
S. S. Schiffman and C. M. Williams
Science of Odor as a Potential Health Issue
J. Environ. Qual., January 1, 2005; 34(1): 129 - 138.
[Abstract] [Full Text] [PDF]


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