Trimethylaminuria Syndrome, Research Paper Example

Trimethylaminuria is a disorder that is not so common to many people. In the past there have been little information regarding this disorder. People who were suffering from this condition did not have information on where they can get the treatment. However as knowledge continues to grow people have been able to do more studies concerning this disorder. The information about this disorder has been made available to the public and it is no longer a problem as people are aware on how to treat it. This paper will look at various aspects of the syndrome.

Trimethylaminuria is a metabolic disorder which affects the productivity of enzyme flavin containing monoxygenase3 (FMO3). The disorder causes the body to lose the ability to break down trimethyline during food digestion to become trimethyline oxide. The process involved is called N oxygenation. Due to the failure of its breakdown, it builds up and then released in sweat, urine and also in breath. The condition does not have physical symptoms that can be observed. The disorder is also referred to as the fish odor syndrome. (Mitchell and Smith)

The condition makes the body to produce a bad odor. This condition can cause problems in an individual life, for example, social life and also the work life. The condition may be caused by side effects that come as a result of treatment with high dosage of amino acids derivative. This occurs as a result of failure by cells to make certain proteins, which in this case enzyme known as flavin which contains monooxygenenase3. This makes the speed of the biochemical activities to be low. This makes foods which contains choline, carnitive and trimethylamine-N-oxide be processed to trimethylamine which causes a strong fishy odor.

This condition mostly affects those people whom their relative of the family had incidences of this syndrome. Those parents who have the syndrome pass them to the children through genes. It is inherited in an autosomal way. (Steve 78). There is a mutation of each cell in two copies of the genes involved. The condition is also present in females during the menstruation period. Most women have this conditional at this period though it is short lived. This makes it advisable for diagnosis, not to be carried to a woman during menstruation as it will show a positive result which is not the case.

The condition manifestation can be prevented by managing the content of trimethylamine that is present in milk especially the ones gotten from cows that are fed by wheat. There should be restriction of choline which is present in eggs, liver beans peanuts etc. This is also prevented by use of acid soaps and body lotions which remove trimethline that is secreted by the body. The manifestation is also reduced by the use of charcoal that is activated and copper chlorophyllin which sequest trimethline that is produced in the gut. Antibiotics are also useful as they reduce the rate of production of trimethylamine as they reduce bacteria found in the gut. However, long term use of antibiotics should be avoided. (Nenad, George and James 106)

Secondary complication of the condition is prevented by planning and monitoring of the diet to make sure that the diet contains choline and folate that are required for certain age and also sex. There is also need to refrain from food that contains high level of trimethylamine for instance sea food, eggs, Soya products etc. The condition can also be treated by avoiding circumstances that makes the body sweat, for example, exercise, stress etc. Due to the fact that the condition is inherited it is advisable to treat those relatives who are at risk. This is done by testing the siblings in order to make identification of those who have the syndrome. This helps in the condition management to lower the production of Trim ethylamine (Nenad, George $ James 86-87).

The disorder is also treated by use of counseling especially where the problem is affecting the normal life of an individual. Many people go through social difficulties because of the odor that they produce. This may have psychological effects to the individual. This is why it is always advisable that when such a situation arises its good to seek the services of a counselor.

In the recent time there has been great progress that has been made in trying to understand and treat the condition. During diagnosis the measurement of the ratio of trimethylamine in relation to trimethyline oxide is the screening test standard. There is a blood test which provides the genetic analysis. In this analysis, the enzyme, which has the responsibility of TMA N- oxygenation, is coded like FMO3 gene. This test is also used in the identification of those people who are carriers of this syndrome i.e. those people who have a copy of the mutated gene but don’t show the symptoms of the disorder. In this case the person is given a dose of Choline and then their urine is taken for testing of the increased level of trimethylamine (Mitchell and Smith).

Diagnosis of the condition is based on the percentage of total trimethalymine. This is the combination of trimethylamine and the non odorous metabolite TMA N-oxide which is produced in the urine in the form of free trimethylamine that is unmetabolized. In this case if the condition is severe there is less than 40% of the total trimethalymine which is excreted in the form of unmetabolized free trimethalymine. For mild Trimethylaminuria 10% – 39% of total trimethylamine is produced as unmetabolized free trimethylamine. For those that are unaffected there is 0% – 9% of total trimethylamine is excreted as unmetabolized. (John, Jean-Marie and Walter 383).

There are some forms of Trimethylaminuria which have a transient character and this makes it difficult to differentiate it with the form that is inherited. In this case biochemical testing is done on two occasions. Diagnosis should not be carried to women during the menstruation as even those who are not affected may have a short stance of the condition during the menstruation period. (John, Jean-Marie and Walter 383).

The whole process of the detection of trimethylamine and the trimethylamine N- oxide involve the use of complicated equipments and also requires personnel that are highly skilled. Some of the techniques that are used in diagnosis include mass spectroscopy, proton nuclear magnetic resonance spectroscopy and the head space gas chromatography. Mass spectroscopy and proton nuclear magnetic resonance spectroscopy are the once that are mostly used in clinical diagnosis. This is because they are capable of detecting trimethylamine and trimethylimine N- oxide in a simultaneous way and also have great sensitivity. The proton nuclear magnetic resonance spectroscopy is more advantageous because it is performed without prior extraction therefore, performed directly on the urine samples. (Nenad, Marinus and Michael 112)

During the testing, it is difficult to differentiate those who are affected and carriers because they produce less than 10% of trimethylamine in the form of unmetabolized free amine. Carriers can be detected by use of trimethylamine load where 600 mg of trimethalymine is taken orally in a gelatine capsule. In this test, the carriers excrete 20% – 30% of total trimethylamine in the form of unmetabolized amine. Those who are unaffected produce less than 13% of the same (Justice 34).

Conclusion

As can be observed, this disorder is not so much common to people. However, many people may be affected by this problem without knowledge of what might be happening. It is advisable that if some of the symptoms of the disorder begins to appear its good to seek for treatment. Those who have the problem should follow the treatment instructions given by a physician. This is in the kind of food that they eat and also trying to avoid circumstances that may cause more development of the disorder. It is advisable for parents who have this problem to take their children for diagnosis at an early age so that they can start managing the problem at an early stage.

Works Cited

Blau, Nenad, Duran Marinus and Gibson Michael. Laboratory Guide to the Methods in Biochemical Genetics. New York: Springer, 2008.

Blau Nenad, Hoffmann George and Leonard James. Physician’s Guide to the Treatment and Follow-up of Metabolic Diseases.  New York: Springer, 2006.

Chen, Harold. Atlas of genetic diagnosis and counseling. New Jersey: Humana Press, 2006.

Fernandes, John, Saudubray, Jean – Marie, and Walter John. Inborn metabolic diseases: diagnosis and treatment, 4th ed. New York: Springer, 2006, pg 383.

Hannigan, Steve. Inherited Metabolic Diseases: A Guide to 100 Conditions.  UK: Radcliffe Publishing, 2007

Lebea, Justice.  Molecular characterization of suspected heterozygotes of Trimethylaminuria. Burgersdorp: Potchefstroom University for Christian Higher Education, 2002.

Mitchell S.C, and Smith R.L. Trimethylaminuria: the Fish Malodor Syndrome. 12 June 2009. 09 March 2010.  < http://dmd.aspetjournals.org/content/29/4/517>