Trimethylaminuria

Important
It is possible that the main title of the report Trimethylaminuriais not the name you expected.

Synonyms

Fish Odor Syndrome
Flavin Containing Monooxygenase 3
FMO, Adult Liver Form
FMO3
Stale Fish Syndrome

Disorder Subdivisions

None

General Discussion

Trimethylaminuria 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.

Resources

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe
Intl
CW2 6BG
United Kingdom
Tel: +44 870 7700 325
Fax: +44 870 7700 327
info@climb.org.uk
http://www.CLIMB.org.uk

Trimethylaminuria Foundation
P.O. Box 3361
Grand Central Station
New York
NY
10163-3361
USA
Tel: (212)300-4168
Fax: (917)640-7308
theTFnetwk@aol.comTrimethylaminuria Midwest Region Foundation
12537 Hardy Street
Overland Park
KS
66213-1446
Tel: (913)906-9496
EMPORIA962000@YAHOO.COMMUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay
WI
54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
800: (877)336-5333
mums@netnet.net
http://www.netnet.net/mums/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg
MD
20898-8126
Tel: (301)519-3194
Fax: (240)632-9164
800: (888)205-2311
TDD: (888)205-3223
gardinfo@nih.gov
http://www.genome.gov/10000409

For a Complete Report:

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated: 4/7/2008
Copyright 1994, 1995, 1999, 2005 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: April 07, 2008

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