2002 Bibliography prepared for the 2nd TMAU workshop : 1% may be affected ?

This 163 citations bibliography (January 1999 through August 2001) was prepared in support of the Second Workshop on Trimethylaminuria* held at the National Institutes of Health (NIH) on March 15-16, 2002, in Bethesda, Maryland

Full article : http://www.nlm.nih.gov/archive//20061214/pubs/cbm/trimethylaminuria_update.html

PDF format : http://permanent.access.gpo.gov/lps536/www.nlm.nih.gov/pubs/cbm/trimethylaminuria_update.pdf

Of particular interest is the introduction, where they elaborate on the general assumptions on TMAU from a genetic viewpoint at the time.

These include :

Many researchers believe that there are several types of TMAU caused by a "spectrum" of changes in the gene which controls the formation of the flavin-containing monooxygenase 3 (FMO3) enzyme. In humans, this is an important liver enzyme that controls the metabolism of substances such as TMA. The most severe form of TMAU appears to be caused by mutations in the FMO3 gene; these mutations appear inherited in an autosomal recessive fashion. Studies are leading many researchers to conclude that the less severe forms of TMAU are caused by several non-benign genetic polymorphisms in the FMO3 gene. Genetic polymorphisms are changes in the gene structure that may be fairly common in the population; however, for reasons, which are not well understood, these changes lead to TMAU-symptoms in certain individuals.

It is estimated that as much as one percent of the U.S. population may suffer from TMAU, but its true incidence is not yet known. But whether it is one or one-tenth of one percent, we know that the condition affects people of both sexes and of all ages and races from around the world. Currently there are more than 300 people with a malodor disorder on the Trimethylaminuria Support Group's mailing list, with many more preferring to remain anonymous because of the often-associated stigma, negative and harassing behaviors targeted at some, and the general lack of medical and other support.