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Útgefið gæðaskjal: Leiðbeiningar
Skjalnúmer: Rklín-593
Útg.dags.: 02/28/2023
Útgáfa: 5.0
2.02.02.01 Trimethylamine, Fish odor syndrome

Samheiti: Uppsöfnum af trimethylamine (TMA) sjá sjúklingum sem eru með Fish Odor Syndrome eða trimethylaminuria. Stökkbreyting á FMO3 (flavin-containing Mono-Oxygenase 3)
-geni.
Hide details for Sýnataka, geymsla og sýnasending Sýnataka, geymsla og sýnasending
Gerð sýnis : EDTA-blóð og þvag
1. Þvag eftir neyslu venjulegs fæðis
2. Þvag 12 tímum eftir neyslu á 300g af ferskum fiski
3. DNA-sýni FMO₃ gen ( EDTA-blóð eða einangrað DNA)

Magn: Þvag >2 ml og EDTA-blóð 5 ml
Geymsla sýnis: Frystir (þvag) / stofuhiti
Sýnasending: Hraðsending á þurrís (þvag) /stofuhita (blóð)
Hide details for Heiti tilvísunarannsóknastofu og heimilisfangHeiti tilvísunarannsóknastofu og heimilisfang
Radboudumc
Laboratory for Diagnostics
Translational Metabolic Lab (TML)
PO Box 9101
Internal Post 815
6500 HB Nijmegen
The Netherlands
Tel : +31(0) 24-3614777
+31(0) 24-3614567

Kontaktar: Email: gen@radboudumc.nl
secretariaattml@radboudumc.nl
Bert.vandenHeuvel@radboudumc.nl

www.radboudumc.nl/labgk
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Fróðleikur:

Trimethylaminuria is a metabolic disorder that occurs when the body is unable to break down certain nitrogen-containing compounds such as trimethylamine. Trimethylamine, which has a fishy odor, is produced in the intestines when certain types of food (i.e. eggs, liver, legumes, fish and some vegetables) are digested. As trimethylamine begins to accumulate in the body, it is released in the sweat, urine, reproductive fluids, and breath. This leads to the characteristic odor of trimethylaminuria. Affected individuals do not have other health problems related to the condition, but the unpleasant odor can result in social and psychological problems. Trimethylaminuria seems to be more common in women. Researchers think this may be due to higher hormone levels aggravating symptoms of the disorder.]

Trimethylaminuria is often caused by changes (mutations) in the FMO3 gene and is inherited in an autosomal recessive manner. Although there is no cure, trimethylaminuria can often be managed by reducing the amount of trimethylamine in the body. For example, affected people can modify their diet to avoid foods with high levels of trimethylamine

Trimethylaminuria is characterized primarily by a fishy odor that occurs when excess trimethylamine is released in the person's sweat, urine, reproductive fluids, and breath. Although some affected people may have a constant strong odor, most have a moderate odor that can vary in intensity. Factors that promote sweating, such as exercise, stress, and emotional upsets, may worsen the odor. In females, symptoms may be more severe right before and during menstruation, after taking oral contraceptives, or around the time of menopause

Affected people typically do not have any additional signs and symptoms and appear healthy. However, the odor can interfere with many aspects of daily life, leading to social and psychological problems.

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Trimethylaminuria is inherited in an autosomal recessive manner.This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition, but in some cases carriers of trimethylaminuria may have mild symptoms or have temporary episodes of fish-like odor.When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier

Although there is no cure for trimethylaminuria, the following are some ways to reduce symptoms of odor:
    • Avoidance of foods that contain trimethylamine and its precursors (choline, lecithin, and trimethylamine N-oxide). Trimethylamine is present in high levels in milk obtained from wheat-fed cows. Choline is present in high amounts in: eggs, liver, kidney, peas, beans, peanuts, soy products, brussels sprouts, broccoli, cabbage, and cauliflower. Trimethylamine N-oxide is present in seafood   
    • Low doses of antibiotics. This decreases the amount of trimethylamine that is made by bacteria in the intestines   
    • Laxatives can decrease the amount of time food remains in the intestines and therefore reduce the amount of trimethylamine made   
    • Nutritional supplements (activated charcoal and copper chlorophyllin) can decrease the concentration of trimethylamine in the urine
    • Soaps with a moderate pH (between 5.5 and 6.5) can help remove the secreted trimethylamine from the skin
    • Riboflavin (vitamin B2) supplements can enhance any existing FMO3 enzyme activity (which breaks down trimethylamine)   
    • Avoidance of exercise, stress, emotional upsets, and other factors that can promote sweating
People with trimethylaminuria may also find the following to be helpful:
    • Behavioral counseling to help with depression and other psychological symptoms
    • Genetic counseling to better understand how they developed trimethylaminuria and the risks of passing the condition on to their children




Ritstjórn

Ingibjörg Loftsdóttir
Sigrún H Pétursdóttir
Guðmundur Sigþórsson
Kristín Sigurgeirsdóttir

Samþykkjendur

Ábyrgðarmaður

Ísleifur Ólafsson

Útgefandi

Sigrún H Pétursdóttir

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