Materiały źródłowe

• #1 A Review of Trimethylaminuria: (Fish Odor Syndrome)

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3848652/

  Trimethylaminuria, better known as fish odor syndrome, is a psychologically disabling condition in which a patient emits a foul odor, which resembles that of rotting fish. The disorder is most commonly caused by an inherited deficiency in flavin monooxygenase 3, the vital enzyme for the metabolism of trimethylamine, which is the compound responsible for the unpleasant odor. […] Most patients with FOS are eventually diagnosed with primary trimethylaminuria, which is caused by a deficiency in FMO3 that is inherited in an autosomal recessive fashion. Under normal circumstances, dietary TMAO and other TMA precursors, such as choline, are ingested and then reduced to TMA by colonic bacteria. […] While primary trimethylaminuria accounts for the majority of cases, there also exists secondary or acquired trimethylaminuria where FMO3 may still retain varying degrees of functionality.

• #2 A Review of Trimethylaminuria: (Fish Odor Syndrome)

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3848652/

  The disease itself is not life threatening, but it significantly diminishes the quality of patients lives, and has even been associated with suicide attempts. […] There are many options to reduce the severity of the condition, which range from simple lifestyle changes, such as washing with acidic soap and eating a choline-deficient diet to utilizing antibiotics and sequestering agents.

• #3 Trimethylaminuria (Fish Odor Syndrome or TMAU)

  https://my.clevelandclinic.org/health/diseases/22356-trimethylaminuria-fish-odor-syndrome

  Trimethylaminuria (TMAU, fish odor syndrome) is an uncommon condition that makes people smell like rotten fish. Its a metabolic disorder. […] Trimethylaminuria happens when something affects the FMO3 enzyme so it doesnt work like it should. […] People with primary trimethylaminuria develop the condition because they inherit abnormal FMO3 genes from both of their biological parents. In secondary TMAU, something keeps your FMO3 enzyme from breaking down trimethylamine. This can happen if: […] Trimethylaminuria can damage your quality of life. Research shows people with the condition often avoid relationships, jobs and activities where others may notice the unpleasant smell that TMAU causes. […] Trimethylaminuria is a chronic condition. There isnt a way to cure it and it doesnt go away on its own. But there are treatments and things you can do to reduce TMAU symptoms and the conditions impact on your life. […] Trimethylaminuria is an uncommon metabolic condition that makes people smell bad. It doesnt hurt, at least in the sense that it doesnt cause physical pain. But it can cause deep emotional wounds that are slow to heal.

• #4 Trimethylaminuria

  https://dermnetnz.org/topics/trimethylaminuria

  Trimethylaminuria is also known as fish (mal)odour syndrome because of the characteristic fishy body odour. […] Primary trimethylaminuria is a rare autosomal recessive genetic disease (MIM 602079), meaning the affected person has inherited two copies of the defective gene, one from each parent. […] Two defective copies of the gene result in a failure to produce sufficient active FMO3 enzyme. […] The gene has been identified and many different mutations detected in sufferers. […] Some mutations cause a reduction in FMO3 enzyme activity and others result in complete loss of enzyme activity. […] Secondary trimethylaminuria occurs when the liver FMO3 enzyme is either overwhelmed or underactive for some reason. […] The enzyme may be overwhelmed by an excessive dietary intake of trimethylamine precursors or when there is bacterial overgrowth in the bowel resulting in increased production of trimethylamine.

• #5 Trimethylaminuria – Metabolic Support UKAccessibility ToolsIncrease TextDecrease TextGrayscaleHigh ContrastNegative ContrastLight BackgroundLinks UnderlineReadable FontReset

  https://metabolicsupportuk.org/condition/trimethylaminuria/

  Trimethylaminuria is caused by a problem in the FMO3 gene. This gene produces the FMO3 enzyme, which breaks down a compound called trimethylamine that is produced in your gut when you eat certain protein-rich food. This process is needed in order to reduce the amount of trimethylamine in the body and to convert it into an odourless molecule. […] If you have a problem in the FMO3 gene, you will not produce enough of the FMO3 enzyme. Therefore, you will be unable to break down trimethylamine, and this causes it to build up until it is released as a strong, unpleasant odour through your sweat, breath, and urine.

• #6 Trimethylaminuria – Wikipedia

  https://en.wikipedia.org/wiki/Trimethylaminuria

  Trimethylaminuria (TMAU), also known as fish odor syndrome or fish malodor syndrome, is a rare metabolic disorder that causes a defect in the normal production of an enzyme named flavin-containing monooxygenase 3 (FMO3). […] Primary trimethylaminuria is caused by genetic mutations that affect the FMO3 function of the liver. […] Mutations in the FMO3 gene, which is found on the long arm of chromosome 1, cause trimethylaminuria. […] If the enzyme is missing or its activity is reduced because of a mutation in the FMO3 gene, trimethylamine is not broken down and instead builds up in the body. […] There are more than 40 known mutations associated with TMAU. […] Although FMO3 mutations account for most known cases of trimethylaminuria, some cases are caused by other factors. […] A fish-like body odor can result from extreme excess consumption of TMA precursors such as choline, carnitine and betaine. […] Two cases of the disorder have been identified in adults with liver damage caused by hepatitis. […] In the case where someone is experiencing liver failure or kidney failure, TMA is sometimes an element present as part of fetor hepaticus, the „breath of the dead”.

• #7

  https://omim.org/entry/602079

  A number sign (#) is used with this entry because of evidence that trimethylaminuria, sometimes referred to as fish-odor syndrome, is caused by homozygous or compound heterozygous mutation in the gene encoding flavin-containing monooxygenase-3 (FMO3; 136132) on chromosome 1q24. […] Trimethylaminuria results from the abnormal presence of large amounts of volatile and malodorous trimethylamine within the body. […] Individuals with trimethylaminuria excrete relatively large amounts of amino-trimethylamine (TMA) in their urine, sweat, and breath, and exhibit a fishy body odor characteristic of the malodorous free amine, leading to the designation fish-odor syndrome. […] Zschocke et al. (1999) studied patients with mild trimethylaminuria and concluded that FMO3 deficiency is a spectrum of phenotypes that can include transient or mild malodor depending on environmental exposures. […] Ayesh et al. (1993) studied 187 subjects with suspected body malodor and concluded that the trimethylaminuria is inherited as an autosomal recessive trait. […] Akerman et al. (1997) and Dolphin et al. (1997) demonstrated that trimethylaminuria is caused by mutation in the FMO3 gene (136132).

• #8 Trimethylaminuria: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/trimethylaminuria/

  Trimethylaminuria is a disorder in which the body is unable to break down trimethylamine, a chemical compound that has a pungent odor. Trimethylamine has been described as smelling like rotten or decaying fish. […] Variants (also known as mutations) in the FMO3 gene cause trimethylaminuria. This gene provides instructions for making an enzyme that breaks down nitrogen-containing compounds from the diet, including trimethylamine. […] If the enzyme is missing or its activity is reduced because of a variant in the FMO3 gene, trimethylamine is not processed properly and can build up in the body. […] Although FMO3 gene variants account for most cases of trimethylaminuria, the condition can also be caused by other factors. […] A few cases of the disorder have been identified in adults with liver or kidney disease. […] Temporary symptoms of this condition have been reported in a small number of premature infants and in some healthy women at the start of menstruation.

• #9 Monell’s TMAU Legacy – Monell Chemical Senses Center

  https://monell.org/tmau/

  Depending on the type of mutation in the FMO3 gene, the amount of unmetabolized trimethylamine (and related odor) varies from person to person. Only about 10 to 15 percent of patients with TMAU have an odor that can be characterized as “fishy.” […] Because of the biochemical nature of the excessive production of TMA, TMAU is linked to the intake of choline-rich foods, including eggs; broccoli; certain legumes such as soy, kidney beans; wheat germ; saltwater fish; and organ meats, including liver. […] Currently there is no cure for TMAU, but treatment options, including avoidance of choline-containing foods, may help reduce odor production. However, choline is an essential nutrient that is needed by your body for many functions. This means that restricting your choline intake without having definitive biochemical TMAU testing and diagnosis could be detrimental to your health. Always consult your physician before trying to restrict dietary choline.

• #10 Trimethylaminuria: Causes and Diagnosis of a Socially Distressing Condition

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3052392/

  Trimethylaminuria is a disorder in which the volatile, fish-smelling compound, trimethylamine (TMA) accumulates and is excreted in the urine, but is also found in the sweat and breath of these patients. […] Primary trimethylaminuria sufferers have an inherited enzyme deficiency where TMA is not efficiently converted to the non-odorous TMAO in the liver. […] Secondary causes of trimethylaminuria have been described, sometimes accompanied by genetic variations. […] Both primary genetic and acquired causes of the symptom have been described. […] The primary genetic form of the disease comprise the majority of the reported cases, and clinical symptoms confirmed genetically as due to inactivating mutations and less severe polymorphisms in the FMO3 gene reported from populations in the USA (including Caucasians, African Americans, Hispanics and Asians), Canada, UK, Spain, Italy, Korea, Japan, Australia (including a patient of Greek ethnicity), Norway and Thailand.

• #11 A Review of Trimethylaminuria (Fish Odor Syndrome) | JCAD – The Journal of Clinical and Aesthetic Dermatology

  https://jcadonline.com/a-review-of-trimethylaminuria-fish-odor-syndrome/

  Trimethylaminuria, better known as fish odor syndrome, is a psychologically disabling condition in which a patient emits a foul odor, which resembles that of rotting fish. The disorder is most commonly caused by an inherited deficiency in flavin monooxygenase 3, the vital enzyme for the metabolism of trimethylamine, which is the compound responsible for the unpleasant odor. […] Most patients with FOS are eventually diagnosed with primary trimethylaminuria, which is caused by a deficiency in FMO3 that is inherited in an autosomal recessive fashion. […] While primary trimethylaminuria accounts for the majority of cases, there also exists secondary or acquired trimethylaminuria where FMO3 may still retain varying degrees of functionality. […] Hepatic disease may serve as another cause as demonstrated in cases of apparent viral hepatitis and in instances of portosystemic shunting and markedly impaired hepatocellular function.

• #12 Trimethylaminuria: Causes and Diagnosis of a Socially Distressing Condition

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3052392/

  Cases of trimethylaminuria have been described where there was no genetic predisposition, or at least less than fully inactivating mutations of the FMO3 gene as described above, but where a combination of dietary, gut metabolism, hormonal and enzyme expression may have been factors. […] In three cases the condition seemed to appear in adult life following an episode of possible viral hepatitis. […] Cases of trimethylaminuria have occurred after therapeutic administration of choline 820 g/day for the treatment of Huntingtons chorea and Alzheimers disease. […] Both portosystemic shunting and severely impaired hepatocellular function have reported to cause trimethylaminuria in a few cases, thought to be due to decreased clearance of the absorbed TMA load, and failure of oxygenation. […] Given that even on the same dose of substrate precursor in loading tests there is a big variation in the amount of TMAO and TMA excretion, it is possible that the nature of the gut microflora may play a significant role in the generation of symptoms in some individuals.

• #13 A Review of Trimethylaminuria (Fish Odor Syndrome) | JCAD – The Journal of Clinical and Aesthetic Dermatology

  https://jcadonline.com/a-review-of-trimethylaminuria-fish-odor-syndrome/

  Trimethylaminuria has been reported in chronic kidney disease, presumably secondary to bacterial overgrowth in the large intestine. […] TMAU is most commonly an inherited disorder that is characterized by an unpleasant odor similar to that of rotting fish. The disease was once considered quite rare, but recent research has demonstrated that the condition may be more prevalent than historically appreciated.

• #14 Trimethylaminuria

  https://dermnetnz.org/topics/trimethylaminuria

  It is likely that in many instances, secondary trimethylaminuria occurs in cases with an inherent reduction in enzyme activity such as in a carrier for the defective gene (a heterozygote). […] Trimethylamine is also the cause of the fishy smell associated with bacterial vaginosis. […] The diagnosis should be considered in patients presenting because of body odour, especially if described as fishy. […] The diagnosis is confirmed on 24-hour urine collection while on a normal diet, and an 8-hour urine collection after either a marine fish meal (for children) or 600mg oral trimethylamine load (adults). […] Dietary modification is the basis of treatment as avoidance of trimethylamine precursors reduces the body odour. […] Marine (sea- or salt-water) fish, including cephalopods and crustaceans, must be avoided completely as they have the highest concentration of the precursor trimethylamine N-oxide.

• #15

  https://111.wales.nhs.uk/encyclopaedia/t/article/Trimethylaminuria(’fishodoursyndrome’)/

  Trimethylaminuria (TMAU) is an uncommon condition that causes an unpleasant, fishy smell. It’s also called „fish odour syndrome.” […] Sometimes it’s caused by faulty genes that a person inherits from their parents, but this isn’t always the case. […] In trimethylaminuria, the body is unable to turn a strong-smelling chemical called trimethylamine produced in the gut when bacteria break down certain foods into a different chemical that doesn’t smell. […] In some cases, this is caused by a faulty gene a person has inherited from their parents. […] Many people with trimethylaminuria inherit a faulty version of a gene called FMO3 from both their parents. This means they have 2 copies of the faulty gene. […] The parents themselves might only have 1 copy of the faulty gene. This is known as being a „carrier.” […] If you have trimethylaminuria, any children you have will be carriers of the faulty gene so are unlikely to have problems. There’s only a risk they could be born with the condition if your partner is a carrier.

• #16 Trimethylaminuria (’fish odour syndrome’) | Health Information from Mediclinic Pharmacy

  https://mediclinicpharmacy.com/nhs_conditions_trimethylaminuria

  Trimethylaminuria (TMAU) is an uncommon condition that causes an unpleasant, fishy smell. It’s also called „fish odour syndrome.” […] Sometimes it’s caused by faulty genes that a person inherits from their parents, but this isn’t always the case. […] In trimethylaminuria, the body is unable to turn a strong-smelling chemical called trimethylamine produced in the gut when bacteria break down certain foods into a different chemical that doesn’t smell. […] In some cases, this is caused by a faulty gene a person has inherited from their parents. […] Many people with trimethylaminuria inherit a faulty version of a gene called FMO3 from both their parents. This means they have 2 copies of the faulty gene. […] The parents themselves might only have 1 copy of the faulty gene. This is known as being a „carrier.”

• #17 Trimethylaminuria (’fish odour syndrome’) | Health Information from Mediclinic Pharmacy

  https://mediclinicpharmacy.com/nhs_conditions_trimethylaminuria

  If you have trimethylaminuria, any children you have will be carriers of the faulty gene so are unlikely to have problems. There’s only a risk they could be born with the condition if your partner is a carrier. […] Genetic counselling may help you understand the risks of passing trimethylaminuria on to any children you have.

• #18 Trimethylaminuria (’fish odour syndrome’) | Clear Chemist

  https://www.clearchemist.co.uk/az-health/trimethylaminuria-fish-odour-syndrome

  Trimethylaminuria is an uncommon genetic disorder that causes a strong body odour usually described as like rotting fish, faeces or garbage. […] The odour is created when the body is not able to break down trimethylamine. […] In most people with trimethylaminuria, the FMO3 enzyme is missing or their FMO3 gene doesn’t work as well as other people’s. This allows trimethylamine to build up in the body. […] Not everyone with trimethylaminuria will have the faulty FMO3 gene. Some cases may be caused by an excess of certain proteins in the diet, or an abnormal increase in the gut bacteria that produce trimethylamine. […] A few cases of trimethylaminuria have been linked with liver or kidney disease, where the FMO3 enzyme is underactive. […] It is estimated than 1% of the UK population are carriers of the faulty gene that causes trimethylaminuria.

• #19 Trimethylaminuria: Definition, symptoms, and more

  https://www.medicalnewstoday.com/articles/trimethylaminuria

  If a persons body has a fishy smell, they may have trimethylaminuria. This is a genetic rare disorder in which the body cannot break down the chemical trimethylamine. It is sometimes called fish odor syndrome. […] Trimethylaminuria is usually an inherited condition that occurs due to an affected flavin-containing monooxygenase 3 (FMO3) gene. […] A mutation in the FMO3 gene affects the FMO3 enzyme. This enzyme converts trimethylamine to trimethylamine N-oxide, which has no smell. […] If the FMO3 enzyme does not work properly, the body is unable to break down trimethylamine, and the chemical builds up in the body. […] In some cases, people may develop secondary trimethylaminuria from large doses of trimethylamine or products that trigger trimethylamine production. […] Symptoms can occur when the FMO3 enzyme in the liver becomes unable to break down the excess quantities of triethylamine.

• #20 Monell’s TMAU Legacy – Monell Chemical Senses Center

  https://monell.org/tmau/

  Trimethylaminuria (TMAU), sometimes known as “Fish-Odor Syndrome,” is a genetically transmitted metabolic disorder. The main symptom of TMAU is a foul-smelling body odor. The odor can smell like fish in some patients and like garbage in others. […] People with TMAU are unable to completely break down trimethylamine (TMA), a chemical found naturally in many foods, especially those containing the essential nutrient choline. As a result, their bodies build up high levels of trimethylamine. The foul-smelling trimethylamine is then excreted in urine, sweat, saliva, and breath. […] An enzyme called flavin-containing monooxygenase enzyme 3 (FMO3) normally metabolizes – breaks down – dietary trimethylamine into a non-odorous byproduct. People with TMAU are born with a defective version of the gene that codes for FMO3 and the resulting faulty FMO3 enzyme is unable to completely break down trimethylamine.

• #21 Trimethylaminuria

  https://dermnetnz.org/topics/trimethylaminuria

  Foods identified to be high in choline include egg yolks, soyabeans, peas, beans, peanuts and other legumes, liver, kidney and other offal, and brassicas such as rapeseed (canola). […] Some sufferers respond well to courses of neomycin, amoxicillin or metronidazole as these alter the bowel bacteria, reducing the production of trimethylamine. […] Hydroquinone used topically as a depigmenting agent has been reported to trigger the fish odour in those using the drug in large amount for a long time.

• #22 Woman, 41, reveals she has rare condition which makes her smell like fish | Daily Mail Online

  https://www.dailymail.co.uk/femail/article-10895691/Woman-41-reveals-rare-condition-makes-smell-like-fish.html

  Trimethylaminuria is condition so rare it has only been recorded 100 times. […] Trimethylaminuria (TMAU) is an uncommon condition that causes an unpleasant, fishy smell. It’s also called „fish odour syndrome”. […] In trimethylaminuria, the body is unable to turn a strong-smelling chemical called trimethylamine produced in the gut when bacteria break down certain foods into a different chemical that doesn’t smell. […] In some cases, this is caused by a faulty gene a person has inherited from their parents. […] There’s currently no cure for trimethylaminuria, but some things might help with the smell. […] It can help to avoid certain foods that make the smell worse, such as: cows’ milk, seafood and shellfish, eggs, beans, peanuts, liver and kidney, supplements containing lecithin.

• #23 Reddit – The heart of the internet

  https://www.reddit.com/r/depression/comments/owpurs/just_a_rant_about_my_disorder/

  I have TMAU ( which is an acronym for trimethylaminuria, a metabolic disorder characterized by body odor that has a fish smell to it. It was formerly called Fish Odor Syndrome. It is not due to a lack of hygiene. Many cases have been identified with no malodor at all. An estimated 7% of people have an inability to perceive the odor. TMAU is caused by the accumulation of trimethylamine (TMA) in body fluids such as urine, sweat, saliva and reproductive fluids. Such accumulation can result in body odor and bad breath and can be quite distressing to people with the disorder. The accumulation occurs because the amount of trimethylamine (TMA), a smelly substance acquired from the diet, is not efficiently converted in the liver to the non-odorous substance TMAO. While once considered to be rare, the condition is now said by researchers to be uncommon. […] This disorder has destroyed my life. […] (I wanted to explain my disorder a little bit because it may not seem like anything but it ends up giving you many mental illness. I have maladaptive daydreaming disorder, anxiety, depression, etc. now since this started)

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