Hi ATA,

Here is the research I've done addressing the questions you ask in your posting.  I hope this helps you answer some of your questions, although it really raises alot more questions.

The more I read, the more I agree with you in that there is still so much to be discovered about body odor in general and particular that produced in TMAU, since TMAU seems to affect people in different ways.  My son is also very allergic to a significant amount of the foods high in choline, but at the same time, he is also not allergic to many other food also high in choline like eggs.  Here are some ideas/questions I’m throwing out there to hear myself think, and perhaps it will help you and others as well.

According to the Choline Content Chart of the U.S. Department of Agriculture, most finfish and shellfish products have significantly lower choline content than eggs, liver, and meats.  Finfish and shellfish products have 30 mg to 84 mg of choline, and legumes and legume product from 24mg – 88 mg.  However, some beef and pork products, (not including liver) such as sausages, frankfurter, ground beef, and steaks have a higher range from the 40s thru 130 mg.  Lamb, veal and game is significantly higher from 100mg to 411mg.  And, the worst are eggs – ranging from 225 mg to 682.4 mg, and liver – from 200 mg to 430 mg. 

It is my understanding that in addition to fish having a lower choline content compared to meats and eggs (according to the USDA chart), finfish ALSO contains trimethylamine (TMA) precursor contents.  So, maybe by eating fish, you’re getting a double-wammy of TMA, one from the choline breakdown and the other from the TMA precursor of the fish.   This is an interesting thought, but I could be wrong about it.  However, all the TMAU literature refers to TMA as a fish-like smelling substance found in fish.  

A scientific research done in 2004 at the Hokkaido University in Sapporo, Japan by renowned scientists, including Dr. Preti who my son is going to be tested by, published in http://www.ncbi.nlm.nih.gov/pubmed/15043988 , clearly explains that, “Trimethylaminuria (TMAU) is a metabolic disorder characterized by the inability to oxidize and convert dietary-derived trimethylamine (TMA) to trimethylamine N-oxide (TMAO).”  In addition, I also wonder if there are numerous sources of TMA, such as in the case of finfish - one from choline and yet another.

As I understand this research, as the choline in our food is chemically broken down, it goes through various stages; and at one of its stages, it normally becomes trimethylamine (TMA, a fish-like smelling substance found in fish).  This is the stage when the gene that codes FM03 (the enzyme involved in breaking down TMA) normally performs its function to further break down this choline-derived TMA to a non-odorous state (TMAO).  In trimethylaminuria (TMAU), the process of breaking down trymethyline (TMA) does not take place, or only partially takes place based on the degree of mutation of the gene that codes FM03 resulting in “abnormal FM03 capacity with reduced FM03 function”.   http://www.biomedcentral.com/1471-2350/8/2  Perhaps you don’t have a fishy odor, even though you have primary TMAU, because maybe your FM03 capacity and function fluctuates from time to time and the combination of foods in your diet and/or supplements may also alter your scent.

That’s why the U.S. National Institute of Health (NIH) http://www.genetests.org/query?dz=trimethylaminuria, recommends the use of Vitamin B2 (riboflavin): 30-40 mg, three to five times a day with food to enhance whatever FM03 capacity and function you may have.  I wonder if this FM03 function fluctuates with hormonal changes, stress, medication, etc.  Maybe this explains why its intensity changes from time to time in people.  Under the section, What do we know about heredity and trimethylaminuria it says, “The severest cases, manifested by individuals with FM03 mutations are generally present from birth” (as is your case).  I do hope that the Vitamin B2 will have positive results for you in enhancing your FM03 capacity and function. 

I bet that someday, the researchers will find more answers to this and many other questions as people like you and others in this forum continue to be tested and diagnosed with this condition.  The more subjects the researchers can test and observe, the greater their chances are of finding a better treatment or a cure.  In this forum description, it states that, “…in 1970, only 30 cases have been reported in the world’s literature…” From that time through 2006, there have been from an increase to less than 2,000 known cases in the U.S.  For a disease to be considered a rare disease in the U.S., there has to be a prevalence of fewer than 200,000 affected individuals in the country.  http://www.geneticalliance.org/ksc_assets/programs/acmg_advocate_reports_2006... There is a very strong possibility that most people throughout the world who have this disease, have not been diagnosed, for many reasons.  Therefore, it is very important to be tested, if anyone thinks they might have it in order to help these professional medical institutions find a solution – a better treatment or a cure.

Another excellent online article, consisting mostly of a bibliography compiled in the First International Workshop on Trimethylaminuria in Bethesda, MD on March 29 and 30, 1999.  I found it on the website:   http://202.116.74.5/pract/show_text.php?engine=biology&tbl=contents_62&id=238&file=2608 , and it was sponsored by the Office of Rare Diseases of the National Institutes of Health (NIH) and The Wellcome Trust of the United Kingdom. Cosponsors of this workshop were other components of NIH, including The Fogarty International Center, The National Institute of Arthritis and Musculoskeletal and Skin Diseases, The National Institute of Deafness and Other Communication Disorders, The National Institute of General Medical Sciences, and The National Institute of Neurological Disorders and Stroke, as well as Towards Education for all with Multimedia (TEAM) in the United Kingdom. The Workshop was held at the Lister Hill National Center for Biomedical Communication on the campus of the National Institutes of Health in Bethesda, Maryland on March 29 and 30, 1999.” The article states that,

“In addition, there are several stigmata associated with this condition including dermatologic problems and a wide range of neurologic symptoms. Further, trimethylaminuria has been seen in Noonan's and Turner's syndromes, Prader-Willi Syndrome, renal and hepatic diseases, disorders of carnitine and choline intake, hematological anormalities, and deficient nicotine N-oxidation among other conditions… Management of trimethylaminuria in all its forms and manifestations is not always easily accomplished. Some individuals can successfully control this condition by diet; still others have trimethylaminuria that is not responsive to dietary management. Antibiotic treatment has been used for some patients. Because there are frequently other organ systems involved, the prevention and treatment of the whole range of associated symptoms and their treatments can be complex and are as yet not clearly delineated or resolved.”

I do hope that someday soon these researchers gain a great deal more knowledge about all these diseases and how they are intertwined with each other.

Hope this helps somewhat.
mpdela