1983 Paper: Profiles of Urinary Volatiles from 3 'odorous' Metabolic Disorders

Clinicians frequently associate peculiar body odors with a disease state, and for several disorders, such as trimethylaminuria, isovaleric acedemia, and maple syrup urine disease, "the odors are distinct enough to be diagnoses with a urine test using a gas chromatograph (GC)". See previous posts in this blog under the label: 'recognised metabolic odor conditions' for further reading on these metabolic disorders.

This 1983 article compares the profile of urinary volatiles from a healthy subject with those suffering from these metabolic disorders. The graphs on this paper clearly depict how the pathological profile was dominated by a few major components instead of the large number of minor components usually present in normal profiles. Yet, "Despite the apparent utility of an assessment of patient odor, little work has been done to define these diagnostic criteria..."

The volatiles profiles of patients suffering from this disorder [TMAU]were strikingly simple. A single large peak, usually the first peak to appear, Dominated the GC chromatogram. The compound eluting in this peak, identified as Trimethylamine by GC-MS, was present at such high amounts that in the short time required to saturate the collection trap, no other compounds were extracted to detectable quantities. Figure 6 is typical of the profiles obtained from a number of such patients...Contrary to earlier reports (13), we have found trimethylaminuria to be relatively frequent. In this laboratory over a period of about three years, 10 patients have been confirmed as suffering from this disorder, and we are aware that a similar number has been seen in other laboratories (D. M. Danks, personal communications). We will publish the results of a detailed investigation of this disorder in the near future.

abstract: http://www.clinchem.org/cgi/content/abstract/29/10/1834?
full paper (PDF): http://www.clinchem.org/cgi/reprint/29/10/1834.pdf