TRIMETHYLAMINURIA

A metabolic disorder affecting people who inherit two copies of an altered FMO3 gene. Patients emit a foul odor resembling of rotten fish through their bodies' excretions (Sweat, breath, urine, saliva). For this reason, the condition is known as the fish odor syndrome.

Trimethyamine is an organic compound with the formula N(CH3)₃. This colorless, hygroscopic, and flammable tertiary amine has a strong "fishy" odor in low concentrations and an ammonia-like odor at higher concentrations.
Gut microbial metabolism of choline results in the production of trimethylamine (TMA).
Trimethylaminuria is an autosomal recessive disorder involving a trimethylamine oxidase deficiency.

Trimethylamine N-oxide (TMAO) is the organic compound in the class of amine oxides with the formula (CH3)₃NO. It results from the oxidation of trimethylamine. It is colorless and non odorous.

Is the process by which the metabolism converts trimethylamine (TMA) from precursor compounds in food digestion into trimethylamine oxide (TMAO). In case of trimethylaminuria, this mechanism is either impaired or totally faulty.

Body odor has its origin from skin glands secretions substances. Diet, psychological conditions and bacterial behavior are the main factors considered as influencing the body odor, especially in axillary and genital regions where odors are more intense.

The smell is a scent perceived by the sense of olfaction. It represents both pleasant (fragrance, perfume) and unpleasant odors (malodor, stench, stink).
Rotten eggs odor is classified as putrid.

A medical condition is the state of the body when his normal functioning is impaired. The term is used to designate an handicap or a disease.

A syndrome is the set of symptoms and signs that characterize a condition, often linked each other.

Ammonia is a compound of nitrogen and hydrogen with the formula NH₃. It is a colorless gas with a characteristic pungent smell. Ammonia is caustic and hazardous.

DNA is a double stranded polymer molecule coiled around each other to form a double helix and linked by hydrogen bonds. DNA is a nucleic acid that contains bases of four types : A (Adenine) C (Citosine) T (Thymine) G (Guanine).
Most of genetic information located in DNA which is considered as the blueprint of life and a kind of instruction manual.
Strands are complementary, A always matches T, and C matches G; The sequence of nucleobasis (ATCG) constitute a unique genetic code for every human being.
DNA is the material chromosomes are made of. Humans have 23 pairs of chromosomes.

In biology, a mutation is a permanent change of the DNA or other genetic elements and resulting from errors in the process of replication, or from the insertion or deletion of segments of DNA by mobile genetic elements. Mutations may or may not produce discernible changes in the observable characteristics (phenotype) of an organism.
Mutations in genes can either have no effect, alter the product of a gene, or prevent the gene from functioning properly or completely.
Genetic mutations occuring in the FMO3 gene may affect enzyme activity which could be reduced or abolished. In this case, the subject would be tested positive to trimethylaminuria.

A metabolic disorder can happen when abnormal chemical reactions in the body alter the normal metabolic process. It can also be defined as inherited single gene anomaly, most of which are autosomal recessive (like in the case of trimethylaminuria).

Choline is a water-soluble nutrient essential for human life. Gut microbial metabolism of choline results in the production of trimethylamine (TMA), which upon absorption by the host is converted in the liver to trimethylamine-N-oxide (TMAO).

FMO3 (Flavin Containing Monooxygenase 3), the major FMO expressed in adult liver, is a Protein Coding gene. It has the capacity to oxygenate xenobiotics including trimethylamine.
Mutations in this gene could result in trimethylaminuria.

A gene is a segment of DNA that is passed down from parents to children and confers a trait to the offspring. A gene is a part of DNA that codes for a specified protein. Human possesses around 20,000 to 25,000 genes.
While genes account for 3% of DNA, the 97% rest in still unknown.
The chromosome 1, where the FMO3 gene is located (at the position 1q24.3), contains about 8000 genes.

A protein is a large molecule consisting in a sequence of amino acids and has a specified function within living organisms.

Probiotics are a kind of healthy (host-friendly/beneficial) bacteria (living micro-organisms) that enhance immune system and reduce gastrointestinal discomfort.

An enzyme is a macromolecular catalyst that accelerates the chemical transformation of substrates into products without being consumed in the reaction.
An enzyme's activity decreases markedly outside its optimal temperature and pH.

We can find twenty different amino acids in proteins. The set of amino-acids forms a protein. The protein coded by the FMO3 gene contains 532 amino acids.

A Codon is a sequence of three nucleotides and is translated into one amino-acid.

An exon is a fragment of DNA. FMO3 gene has nine exons.

pH is a numeric scale ranging from 1 to 14 and used to specify the acidity or alkalinity of an aqueous solution. It is an indication of the hydorgen ion concentration of a solution.
the lower the pH of a given solution (i.e. the higher the H+ concentration as pH = -log[H+]), the stronger is its acidity.
A solution with a pH equals to 7 is neutral.

Riboflavin, commonly called Vitamin B2, is used as a supplement in diets.