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Blog Archive

Wednesday, November 12, 2008

email to a list of genetic labs in genetests.org directory






This is an abridged version of an email that has been sent to most of the genetic labs listed on this page on the genetests.org site. The purpose is to raise awareness of metabolic/bloodborne/systemic body odor and halitosis in the medical system, and hopefully get more researchers and labs involved in what is likely the biggest 'unknown' health problem.


Hello,

Have you considered adding the trimethylaminuria urine and DNA tests to your list of tests ? It's estimated that perhaps 1% or more could be genetically 'at risk'. I think you will find there is a great need for these tests.

Possibly, metabolic body odors/halitosis have yet to be properly and extensively defined, but trimethylaminuria is the only 'diagnosis' the 'system' is currently offering, so it makes a starting point. You could be talking 1% or more of the population. It used to be regarded 'autosomal recessive' but they seem to have loosened the criteria. On the body odor/halitosis messageboards, many seem 'metabolic/bloodborne' cases.

Currently in the USA, there is one lab doing FMO3 DNA testing (out of kindness, having been told there's no need to keep testing): The HBRI Institute
HBRI currently receives no funding for its TMAU program other than through donations. The program is quite expensive to maintain but we beleive that this important research should be continued.
and 2 hospital labs do the TMAU urine test (again out of kindness, which might change anytime with new management).

If you ever want to research into metabolic body odor/halitosis and need volunteers, feel free to contact us. You are likely to be overwhelmed by volunteers.

"Mild to transient trimethylaminuria is caused by common variants in the FMO3 gene leading to greatly reduced enzyme activity in vivo. FMO3 deficiency may have clinical relevance well beyond unpleasant body odour."
http://www.ncbi.nlm.nih.gov/pubmed/10485731?dopt=Abstract

"A small but important percentage of oral malodour cases have an extra-oral aetiology and certain of these fall into the category of 'blood-borne halitosis'. Odoriferous substances generated within the body and transported to the lungs via the circulatory system may, if sufficiently volatile, leave with the exhaled air and impart a foetid odour to the breath. The aliphatic tertiary amine, trimethylamine, is such a volatile compound that is generated to excess in patients with a metabolic disorder known as trimethylaminuria (fish-odour syndrome). This article highlights this condition and draws attention to its potential role in the causation of recalcitrant oral malodour."
http://www.ncbi.nlm.nih.gov/pubmed/15752091

"CONCLUSION: Together, these results indicate that abnormal FMO3 capacity is caused by menstruation particularly in the presence, in homozygous form, of mild genetic variants such as [Glu158Lys; Glu308Gly] that cause a reduced FMO3 function."
http://www.ncbi.nlm.nih.gov/pubmed/17257434

"A 1999 NIH sponsored workshop on trimethylaminuria estimated that as much as
one percent of the U.S. population may suffer from a genetic defect in the flavin-
containing monooxygenase 3 gene, FM03. This defect leads to the development of a
fishy body odor because of an accumulation of trimethylamine "
http://www.nal.usda.gov/fnic/foodcomp/Data/Choline/Choline.pdf

"CONCLUSIONS: DMGDH deficiency must be added to the differential diagnosis of patients complaining of a fish odor. This deficiency is the first inborn error of metabolism discovered by use of in vitro 1H NMR spectroscopy of body fluids."
http://www.ncbi.nlm.nih.gov/pubmed/10102904

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