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  • Title: Profiles of urinary volatiles from metabolic disorders characterized by unusual odors.
    Author: Burke DG, Halpern B, Malegan D, McCairns E, Danks D, Schlesinger P, Wilken B.
    Journal: Clin Chem; 1983 Oct; 29(10):1834-8. PubMed ID: 6616835.
    Abstract:
    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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