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.
you would like to help support this important program, please
visit our giving page
here to donate now.
HBRI is a 501(c)3 non-profit.
HBRI IS NOT ACCEPTING ANY SAMPLES FOR TMAU TESTING..
Trimethylaminuria Foundation (not affiliated with HBRI) is
a good source of information on TMAU. They can be contacted
by at TRIMETH411@aol.com
or by calling 212-300-4168.
to lack of program support and funding, HBRI is no longer accepting samples for
testing is currently available at the Monell
Chemical Senses Center (not affiliated with HBRI).
you think you, or someone you know, may have TMAU, please read this
What is TMAU?
(TMAU) is a genetically-mediated disorder, which appears to be inherited
in an autosomal, recessive fashion. This was discovered initially
by studying sufferers and their families, and more recently, by
examining the molecular deficits responsible for TMAU. The biochemical
deficit causing TMAU is the inability to completely metabolize trimethylamine
(TMA) to TMA-oxide (TMAO) in the liver. TMAO is a non-volatile (non-odorous)
solid that is excreted in urine. The enzymes catalyzing this conversion
are the microsomal, flavin-containing monooxygenase (FMO). The FMO
family of enzymes are catalytically diverse and catalyze the oxygenation
of a variety of heteroatom-containing (N-, S-, P-) endogenous and
presenting symptoms of TMAU stem from excess, unmetabolized trimethylamine.
TMA is formed in the gut by bacterial metabolism of dietary constituents,
principally choline. TMA is a gas at body temperature and has a
foul, fishy odor. At very low concentration, it may only be perceived
as foul, unpleasant or “garbage-like”. Excessive production
of TMA is linked to the intake of a variety of choline rich foods,
(such as eggs, certain legumes, fish and organ-meats) hence the
sporadic production of symptoms. Because there are many foods that
are rich in choline, both patients and their family members are
unlikely to relate the odor to food intake.
include foul body odors, halitosis and/or dysguesia, which can produce
social embarrassment and can be temporarily relieved by normal hygiene
procedures. Further, the unpleasant symptoms are often sporadic
in occurrence and seemingly subjective, and when coupled with a
lack of knowledge of the disease and its etiology among health professionals,
may lead to diagnosis of poor hygiene, psychiatric problems, and/or
referrals to other specialists. The latter has been financially
draining many patients.
in the literature have described other complications occurring in
conjunction with TMAU, such as seizures, skin rashes and syndromes
(Prader-Willi, and Noonan’s). However, the vast majority of
patients appear to have normal mental and physical abilities, lead
normal lives and have good hygiene practices. The main problem afflicting
most patients are psycho-social ones cause by sporadic, unexplained
More Information on TMAU.
(HBRI does not sponsor or endorse the following websites.)
Visit the National
Institutes of Health, Office
of Rare Diseases' website for more information and links regarding
Visit the GeneReviews,
developed by the University of Washington, Seattle, for more information
and resources on Trimethylaminuria.
Visit the USDA's
website for USDA's
Database for the Choline Content
of Common Foods
here to read the abstract from a recent article on TMAU co-authored
by HBRI's Director, Dr. Cashman.
Trimethylaminuria Foundation (not affiliated with HBRI) is a good
source of information on dealing with TMAU after a positive diagnosis.
They can be contacted by email at TRIMETH411@aol.com
or by calling (212) 300-4168.