Trimethylaminuria

As defined by the National Organization for Rare Disorders (NORD)......Trimethylaminuria (TMAU) is a rare disorder in which the body’s metabolic processes fail to alter the chemical trimethylamine.

Trimethylamine is notable for its unpleasant smell. It is the chemical that gives rotten fish a bad smell. When the normal metabolic process fails, trimethylamine accumulates in the body, and its odor is detected in the person’s sweat, urine and breath. The consequences of emitting a foul odor can be socially and psychologically damaging among adolescents and adults. The genetic or primary form of this disorder is transmitted as an autosomal recessive trait.

A secondary form of trimethylaminuria may result from the side effects of treatment with large doses of the amino acid derivative L-carnitine (levocarnitine). The metabolic deficiency occurs as a result of a failure in the cell to make a specific protein, in this case, the enzyme flavin-containing monooxygenase3. Enzymes are nature’s catalysts and act to speed up biochemical activities. Without this enzyme, foods containing carnitine, choline and/or trimethylamine-N-oxide are processed to trimethylamine and no further, causing a strong fishy odor. This secondary form of the disorder is a result of an overload of trimethylamine. In this case, there is not enough of the enzyme to get rid of the excess trimethylamine.

To order a report detailing information on this disorder, visit the National Organization for Rare Disorders (NORD) at http://rarediseases.org

Organizations related to Trimethylaminuria

CLIMB (Children Living with Inherited Metabolic Diseases) Climb Building Crewe Intl CW2 6BG Phone #: +44- 87-0 7700 325 800 #: -- e-mail: info@climb.org.uk Home page: http://www.CLIMB.org.uk

Genetic and Rare Diseases (GARD) Information Center PO Box 8126 Gaithersburg MD 20898-8126 Phone #: 301-519-3194 800 #: 888-205-2311 e-mail: gardinfo@nih.gov Home page: http://www.genome.gov/100000409

Trimethylaminuria Foundation P.O. Box 3361 New York NY 10163-3361 Phone #: 212-300-4168 800 #: -- e-mail: theTFnetwk@aol.com Home page: N/A

Trimethylaminuria Midwest Region Foundation 12537 Hardy Street Overland Park KS 66213-1446 Phone #: 913-906-9496 800 #: -- e-mail: EMPORIA962000@YAHOO.COM Home page: N/A