Profiles of urinary volatiles from metabolic disorders characterized by unusual odors.

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.

[1]  D. Ketting,et al.  Permanent chemical phenylketonuria and a normal phenylalanine tolerance in two sisters with a normal mental development. , 1975, Clinica chimica acta; international journal of clinical chemistry.

[2]  R. F. Simpson.  Influence of gas volume sampled on wine headspace analysis using proconcentration on Chromosorb 105 , 1979 .

[3]  K Liddell,et al.  Smell as a diagnostic marker , 1976, Postgraduate medical journal.

[4]  A. E. Garrod.  Inborn Errors of Metabolism , 1971 .

[5]  K. Hammond,et al.  TRIMETHYLAMINURIA: THE FISH-ODOUR SYNDROME , 1970 .

[6]  A. Tamm,et al.  The production of urinary phenols by gut bacteria and their possible role in the causation of large bowel cancer. , 1976, The American journal of clinical nutrition.

[7]  K. Murray.  Concentration of headspace, airborne and aqueous volatiles on Chromosorb 105 for examination by gas chromatography and gas chromatography-mass spectrometry. , 1977, Journal of chromatography.

[8]  W. Centerwall,et al.  The Child with an Unusual Odor , 1976, Clinical pediatrics.

[9]  W. Nyhan.  Heritable disorders of amino acid metabolism: patterns of clinical expression and genetic variation , 1974 .

[10]  W. Nyhan,et al.  New metabolites in isovaleric acidemia. , 1981, Clinica chimica acta; international journal of clinical chemistry.

[11]  F. Cockburn,et al.  A New Variety of Maple Syrup Urine Disease , 1977, Annals of clinical biochemistry.

[12]  B. S. Drasar,et al.  Human intestinal flora. , 1974 .

[13]  M. Durán,et al.  Gas chromatographic analysis of urinary tyrosine and phenylalanine metabolites in patients with gastrointestinal disorders. , 1971, Clinica chimica acta; international journal of clinical chemistry.

[14]  A. Tamm,et al.  Urinary volatile phenols in patients with intestinal obstruction. , 1971, Scandinavian journal of gastroenterology.

[15]  B. Halpern,et al.  Quaternary ammonium salts for butylation and mass spectral identification of volatile organic acids , 1983 .

[16]  E. Jellum,et al.  Profiling of human body fluids in healthy and diseased states using gas chromatography and mass spectrometry, with special reference to organic acids. , 1977, Journal of chromatography.

[17]  C. W. Lee,et al.  Trimethylaminuria: fishy odors in children. , 1976, The New England journal of medicine.

[18]  A. Zlatkis,et al.  The role of organic volatile profiles in clinical diagnosis. , 1981, Clinical chemistry.

[19]  W. H. Crouch,et al.  Inborn errors of metabolism. , 1967, The Pediatric clinics of North America.