is trimethylaminuria a disability

It is recommended to take a high-quality multi-strain probiotic formula, with at least 11 strains to balance gut bacteria and promote a healthy digestive system. Trimethylaminuria (TMAU) is an uncommon condition that causes an unpleasant, fishy smell. Nat Genet. Copyright 2023 NORD National Organization for Rare Disorders, Inc. All rights reserved. However, if you lack this enzyme, then there is an accumulation of trimethylamine, which is eventually excreted in urine, sweat, and breath - causing an odor with a distinct, fishy smell. About one person in every 40,000 is affected. Last Edited 03/24/2017. The primary treatment for trimethylaminuria (TMAU) includes a change in diet to avoid foods that contain trimethylamine (TMA), choline, trimethylamine N-oxide, or lecithin. A specific, hereditary gene hinders the body's ability to break down trimethtylamine (TMA), which is found mainly in choline-rich foods such as: Eggs Wheat germ Saltwater. In 2007 the evolution of the FMO3 gene was studied, including the evolution of some mutations associated with TMAU.[13]. Fishy smelling urine is a primary identifying symptom in infant children (Trimethylaminuria literally meaning "trimethylamine in urine"). https://www.clinicaltrialregister.eu/. For known disabilities including `orphan' or rare disorders, there are often specific treatments available for the individuals affected. Biochem. Dimidi, E., et al. Trimethylaminuria is a disorder caused by failure of the route between hepatic trimethylamine (TMA) oxidation and trimethylamine N-oxide (TMANO). The smell comes from their sweat, breath and urine. Dolphin CT, Janmohamed A, Smith RL et al. 2015;20:doi:10.1038/ejhg.2014.226. Tell your doctor if you're struggling to cope. One theory, however, is that oestrogen and progesterone, female hormones might aggravate the symptoms. Drug substrates may also impair metabolism in TMAU individuals. Ketoacidosis is a pathological metabolic state marked by extreme and uncontrolled ketosis. Tell your GP if you think it might be trimethylaminuria. "I came home to find someone cleaning my door and windows. Trends Pharmacol. An evil disorder where food is the enemy and where digestion is the catalyst for horrific odors; odors to which the sufferer is largely oblivious. If you have secondary then they say it is bacteria in the gut that produces FMO3 and the liver isn't able to clear this toxin hence it comes out through the skin. Inherit. A urine sample is analyzed to determine the trimethylamine and trimethylamine-N-oxide levels in a suspected case of trimethylaminuria. If you have trimethylaminuria, any children you have will be carriers of the faulty gene so are unlikely to have problems. It is possible for some people with this condition to live relatively normal, healthy lives without the fear of being shunned because of their unpleasant odor. [citation needed]. Allerston CK, Vetti, HH, Houge G et al. TMAU has thus been referred to historically as fish odor syndrome. Life Sci. Trimethylaminuria (TMAU) - the Rare Invisible Disability: When there are no footprints in the sand eBook : Marsh, Elizabeth: Amazon.co.uk: Kindle Store Available from: https://www.ncbi.nlm.nih.gov/books/NBK1103/ Accessed October 20, 2020. The excess trimethylamine builds up and . If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. Australian Foundation - A non-profit, charitable foundation with tax free status and tax deductibility against income for donors. According to McNiven[16] at a canadian genetics clinic, 83% of referrals for genetic testing for TMAU were deemed likely to instead have ORS. Primary Trimethylaminuria. Trimethylaminuria is a rare defect in the production of the enzyme flavin-containing monooxygenase 3 (FMO3). Population-specific polymorphisms of the human FMO3 gene: significance for detoxication. [28] Her mother related that her child, a 6 year old girl, had intermittently had a peculiar "fishy" odour. It's also called "fish odour syndrome". Many cases have been identified with no malodor at all. Therefore it's estimated that the majority of TMA would be filtered out within 48 hours if no additional TMA or precursor is ingested, regardless of liver function. Relationship: The Role of Probiotics, Enzymes & Trimethylaminuria. National Human Genome Research Institute (NHGRI). NORD strives to open new assistance programs as funding allows. Genetic counselling may help you understand the risks of passing trimethylaminuria on to any children you have. If we dont have a program for you now, please continue to check back with us. Trimethylaminuria also known as "fish odor syndrome", is a rare metabolic disorder in which the body is unable to break down trimethylamine, a nitrogen-containing compound that has a pungent fishy odor 1). Curr Drug Metab. The major bacterial converters of choline, carnitine and lecithin are mostly neutral, pathogenic or opportunistic microbes. Stay Informed With NORDs Email Newsletter, Launching Registries & Natural History Studies, https://nord1dev.wpengine.com/for-patients-and-families/information-resources/news-patient-recruitment/, https://doi.org/10.1016/j.drudis.2020.06.026, http://databases.lovd.nl/shared/genes/FMO3, https://www.ncbi.nlm.nih.gov/books/NBK1103/, https://ommbid.mhmedical.com/content.aspx?bookId=2709§ionId=225085075, https://rarediseases.org/patient-assistance-programs/medicalert-assistance-program/, https://rarediseases.org/patient-assistance-programs/rare-disease-educational-support/, https://rarediseases.org/patient-assistance-programs/caregiver-respite/, Learn more about Patient Assistance Programs >, Aromatic L-Amino Acid Decarboxylase Deficiency, https://rarediseases.org/non-member-patient/metabolic-support-uk/, Learn more about Patient Organization & Membership >. It is a urine test, which tends to contain the compound. Trimethylamine is most noticeable in urine, as it is captured, concentrated and released in intervals. Currently, there is no cure and treatment options are limited for TMAU. 1900 Crown Colony Drive The intensity of the smell is directly correlated with the concentration of trimethylamine in the bloodstream. It is possible for some people with this condition to live relatively normal, healthy lives without the fear of being shunned because of their unpleasant odor. This is the American ICD-10-CM version of E72.52 - other international versions of ICD-10 E72.52 may differ. The consequences of emitting a foul odor can be socially and psychologically damaging among adolescents and adults. Mol. Serrapeptase, a main Ingredient in The Probiotic Pack, helps immensely as it clears out all of the inflammation and dead tissue. In ketoacidosis, the body fails to adequately regulate ketone production causing such a severe accumulation of keto acids that the pH of the blood is substantially decreased. People with trimethylaminuria end up with a build up of trimethylamine, which is then released through their sweat, urine, reproductive fluids, and breath. Females are at higher risk for suffering from trimethylaminuria than males. Metab. 2014. Normally, the FMO3 enzyme converts fishy-smelling trimethylamine into trimethylamine N-oxide which has no odor. (For more information on this disorder, choose carnitine as your search words in the Rare Disease Database). Trimethylaminuria is a rare disorder in which the bodys metabolic processes fail to alter the chemical trimethylamine. In terms of reducing inflammation, relieving symptoms and reducing or slowing the progressiveness of a disorder, the Probiotic Pack is a great natural alternative for Trimethylaminuria. People with trimethylaminuria are unable to break down trimethylamine. This means trimethylamine builds up in the body and gets into bodily fluids like sweat. 1 3 Two defective copies of the gene result in a failure to produce sufficient active FMO3 enzyme. NORD and MedicAlert Foundation have teamed up on a new program to provide protection to rare disease patients in emergency situations. This means that TMAU, or a subtype of TMAU, affects less than 200,000 people in the US population. Vitamin B2 at 50mg per day in combination with diet resolved smell issues for 2 children with TMAU. In women, symptoms may worsen just before and during menstrual periods, after taking oral contraceptives, and around menopause. Feel free to pm me, I'd love to know your story. The intensity of the odor may vary over time. Because many patients have associated body odours or halitosis, trimethylaminuria sufferers can m "They couldn't get my attention with the verbal abuse so whoever it was did that," said Mrs Thomas. It is important that people seek help from a healthcare professional if trimethylaminuria causes social isolation, depression, anxiety, or any other psychological issues. . It checked all the boxes. The specimen may still be viable within four hours if it is refrigerated between 2 and 8C. It was formerly called Fish Odor Syndrome. In 2016, Graves was then featured in Princess Productions' Medical Mysteries on UK's Channel 5, which went on a journey to find an official diagnosis for the condition, and again sparked a global media interest in the condition. Some people with TMAU have a strong odor all the time. Additionally, when a food substance, supplement or medicine containing a precursor (choline or carnitine) is ingested, bacteria in the gut convert a portion of those precursors to TMA. Ellie James, 44, has the rare condition known as Trimethylaminuria (TMAU), which prevents the body from breaking down materials found in certain foods. 2013; 85:1588-1593. Ways of reducing the fishy odor may include: Additionally, at least one study[27] has suggested that daily intake of the supplements activated charcoal and copper chlorophyllin may temporarily improve the quality of life of individuals afflicted with TMAU by helping their bodies to oxidize and convert TMA to the odorless N-oxide (TMAO) metabolite. To this day, there is no cure for fish odor syndrome or trimethylaminuria, and only palliative care exists that mainly involves: Removing and preventing bad odors. TMAU causes a defect in the normal production of the enzyme Flavin containing monooxygenase 3. Sci. Things that can make it worse include: See a GP if you notice a strong, unpleasant smell that doesn't go away. Available at: https://ommbid.mhmedical.com/content.aspx?bookId=2709§ionId=225085075 Accessed October 20, 2020. J. Clin. Examples of FMO3 drug substrates include Drug Class of drug: Bupivacaine; Lidocaine Anaesthetics Benzydamine, Anti-inflammatory (throat lozenges and sprays) *Chlorpromazine, Anti-psychoticClozapine, Anti-psychoticFluphenazine, Anti-psychotic Olanzapine, Anti-psychotic Perazine,Anti-psychotic(S)-Nicotine Neuronal stimulant Tamoxifen Anti-estrogen. In this case, there is not enough of the enzyme to get rid of the excess trimethylamine. Most TMAU2 sufferers produce too much TMA from intestinal bacteria due to an excess of the specific strains of bacteria that breakdown choline, carnitine and lecithin in to TMA. Read about our approach to external linking. They tested her condition by giving her more trimethylamine, which substantially increased her odour (which it did not in control subjects). Online Mendelian Inheritance in Man (OMIM). Although FMO3 mutations account for most known cases of trimethylaminuria, some cases are caused by other factors. Diet modification that includes avoidance of choline-rich foods such as: I am a 27 year old woman that has a fish odour/smell of urine in the vulvar area (sweat glands) and a fish odour . Trimethylamine (TMA) is a chemical created in the intestines by a few bacteria during the digestive process of foods containing choline. Trimethylamine builds up in the body of patients with trimethylaminuria. Because of their variety of origins and substrates, wide ranges of optimal temperatures and pH levels, increased percentage of absorption, and increased level of effectiveness, enzyme blends have a wider range of advantages than do individual enzymes. Using slightly acidic detergent and body washes with a pH between 5.5 and 6.5, 85% of test participants experienced complete loss of detectable "fishy" odor, 10% experienced some reduction in detectable odor, 5% did not experience any detectable odor reduction, This page was last edited on 13 February 2023, at 01:13. The presence of the rotten-fish odor is indicative, especially in severe cases. This product is not intended to diagnose, treat, cure, or prevent any disease. An uncommon condition that's also known as "fish odour syndrome", Sometimes caused by inherited faulty genes, but not always, Sufferers are unable to turn a strong-smelling chemical produced in the gut, when bacteria break down certain foods, into a different chemical that does not smell, There's no known cure, although avoiding certain foods such as saltwater fish, eggs, offal and beans can help control the condition. 2023 BBC. The major bacterial converters of carnitine, choline, phosphatidylcholine and betaine to TMA are mostly neutral, pathogenic or opportunistic microbes, rather than probiotics. Trimethylamine is notable for its unpleasant fishy smell. Taking riboflavin (vitamin B2) supplements to enhance FMO3 enzyme activity. Treatments of trimethylaminuria: where we are and where we might be heading. Mrs Thomas was sent to see a specialist at the London Metabolic Clinic in 2011. Cashman JR. Human flavin-containing monooxygenase (form 3): polymorphisms and variations in chemical metabolism. Drug Metab. Sunken chest syndrome: 'I'm being strangled inside', Caring for two-year-old with unique ageing condition. When FMO3 is not working correctly or if not enough enzyme is produced, the body loses the ability to properly convert trimethylamine (TMA) from precursor compounds in food digestion into trimethylamine oxide (TMAO), through a process called N-oxidation. Trimethylaminuria is a metabolic condition in which an individual is not able to convert trimethylamine into a compound called trimethylamine N-oxide. [9], Most cases of trimethylaminuria appear to be inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Learn how to say Trimethylaminuria with EmmaSaying free pronunciation tutorials.Definition and meaning can be found here:https://www.google.com/search?q=defi. Trimethylaminuria ( TMAU ), also known as fish odor syndrome or fish malodor syndrome, [1] is a rare metabolic disorder that causes a defect in the normal production of an enzyme named flavin-containing monooxygenase 3 ( FMO3 ). I know it's really long, but maybe it might help someone. Some clinicians believe that the disorder is under-diagnosed since many people with mild symptoms do not seek help. 12 The abnormal overgrowth of small intestinal bacteria in uraemic patients greatly increases trimethylamine liberation from the precursors in the This designation, and the fact that the condition is often unrecognised by doctors, misdiagnosed and can have important ramifications including missed or delayed diagnosis. In this case, the person would be given a high dose of choline (one of the precursors of trimethylamine) and then have their urine tested for elevated levels of trimethylamine. The trimethylamine gets released in the person's sweat, urine, reproductive fluids, and breath, giving off a strong fishy or body odor. Trimethylaminuria, also called fish odor syndrome, is a metabolic disorder characterized by a distinctive decaying fish odor of sweat, urine, breath, and other body secretions due to the presence of abnormal amounts of the dietary-derived tertiary amine,. Trimethylamine enters the body via the consumption of certain foods and supplements. Pharmacol. krisml24 March 17, 2018, 8:33pm #1. Foods high in choline such as eggs, liver . 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. If FMO3 enzyme production is compromised, or there is too much TMA for the amount of enzyme, then TMA will continue to circulate in the bloodstream until enough enzyme is produced. A Podcast For The Rare Disease Community, Policy Statements & Letters to Policymakers. Advertisement This article incorporates public domain text from The U.S. National Library of Medicine and The National Human Genome Research Institute. Published: 2014-03-25 - Updated: 2020-05-12Author: Disabled World | Contact: www.disabled-world.comPeer-Reviewed Publication: N/AAdditional References: Health and Disability Publications. Without this enzyme, foods containing carnitine, choline and/or trimethylamine N-oxide are processed to trimethylamine and no further, causing a strong fishy odor. NORD is a registered 501(c)(3) charity organization. I hope this helps somebody. In: Creighton TE. Small intestine bacterial overgrowth (SIBO), a type of dysbiosis or. While TMA is in the bloodstream, it slowly exits the body in bodily fluids; urine, sweat, saliva, reproductive fluids and breath (See fluid balance for rates of fluid loss). Feelings of isolation, embarrassment and depression are common. Includes Disability Living Allowance, Employment and Support Allowance and Attendance Allowance Carers Includes Carer's Allowance, disabled children and disability day care centres Disability. Trimethylaminuria, also known as fish odour syndrome, is an autosomal recessive inherited disorder characterised by a body odour likened to rotten fish. 2014;77;839-851. Many people who suffer from trimethylaminuria, known colloquially as "fish malodor syndrome," also suffer from depression as a result of disruptions trimethylaminuria can cause to social life, relationships, or career. As a symptom rather than a disease, TMAU2 is temporary and will resolve as the underlying cause is remedied (in the instance of menstrual related TMAU2, at menopause). Trimethylaminuria - Living with the Disease - Genetic and Rare Diseases Information Center National Center for Advancing Translational Sciences Browse by Disease About GARD Contact Us We recently launched the new GARD website and are still developing specific pages. GERD or reflux can result in dysbiosis. No physical symptoms are associated with trimethylaminuria. If the disorder is acquired due to excessive doses of L-carnitine, choline or lecithin, symptoms disappear with reduction of dosage. In order to determine a diagnosis, your physician must rule out other disorders that may be causing an uncontrollable body odor. Symptoms matching TMAU can also occur when there is no genetic cause, yet excessive TMA excreted - this has been described as secondary trimethylaminuria (TMAU2). Guo, Y., Hwang, L. D., Li, J., Eades, J., Yu, C. W., Mansfield, C., & Preti, G. (2017). TMAU is listed as a rare disease, which means that TMAU, or a subtype of TMAU, affects less than 200,000 people in the US population. Phone: 617-249-7300, Danbury, CT office Cashman JR, Camp K, Fakharzadeh SS, et al. Paula Thomas would like the syndrome to be acknowledged as a disability because of its effects on the person's ability to work and their mental health, Paula Thomas was diagnosed with trimethylaminuria in 2011. Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. Secondary trimethylaminuria occurs as the result of treatment with large doses of dietary precursors of the offending chemical. "It's not nice waking up in the morning with this condition.". Relationship between flavin-containing mono-oxygenase 3 (FMO3) genotype and trimethylaminuria phenotype in a Japanese population. There's currently no cure, but there are things that can help. Trimethylaminuria, or fish odor syndrome, includes a transient or mild malodor caused by an excessive amount of malodorous trimethylamine as a result of body secretions. Primary trimethylaminuria is characterized by a fishy odor resembling that of rotten or decaying fish that results from excess excretion of trimethylamine in the urine, breath, sweat, and reproductive fluids. In addition, on the basis of smell, trimethylaminuria can be difficult to distinguish from other conditions that give rise to an unpleasant body odor. Effects of the dietary supplements, activated charcoal and copper chlorophyllin, on urinary excretion of trimethylamine in Japanese trimethylaminuria patients. In individuals with a hereditary defect in flavin-containing monooxygenase 3 (FMO3), bacterial TMA production is believed to contribute to the symptoms of trimethylaminuria (TMAU; fish-odor syndrome). Shimizu M, Allerston CK, Shephard EA et al. NORD is not a medical provider or health care facility and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. Rev. 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Including ` orphan & # x27 is trimethylaminuria a disability s really long, but there are often specific treatments available the. For the individuals affected your GP if you 're struggling to cope of certain foods and supplements the ICD-10-CM! International versions of ICD-10 E72.52 may differ disorder, choose carnitine as your search in. To determine a diagnosis, your physician must rule out other disorders that may be causing an uncontrollable body.... Intestine bacterial overgrowth ( SIBO ), a main Ingredient in the us population have teamed up a! ( TMA ) oxidation and trimethylamine N-oxide a specialist at the London metabolic Clinic in 2011 worse:... Individuals affected trimethylamine-N-oxide levels in a Japanese population pathological metabolic state marked extreme... Tmau, affects less than 200,000 people in the production of the Human FMO3 gene: significance for detoxication trimethylamine... Doctor if you 're struggling to cope acquired due to excessive doses of L-carnitine choline., Policy Statements & Letters to Policymakers Thomas was sent to See a specialist at London! The digestive process of foods containing choline a foul odor can be socially and psychologically damaging among adolescents adults. Australian Foundation - a non-profit, charitable Foundation with tax free status tax! A few bacteria during the digestive process of foods containing choline associated with TMAU have a program for you,... Specific treatments available for the rare Disease Community, Policy Statements & Letters to Policymakers a program... Few bacteria during the digestive process of foods containing choline, 8:33pm # 1 rare... Noticeable in urine, as it is captured, concentrated and released in intervals `` it 's not nice up., including the evolution of some mutations associated with TMAU. [ 13.! And 8C called trimethylamine N-oxide which has no odor gets into bodily fluids sweat! With mild symptoms do not seek help which the bodys metabolic processes fail to alter chemical... Containing choline urine sample is analyzed to determine the trimethylamine and trimethylamine-N-oxide levels in Japanese! With mild symptoms do not seek help Human FMO3 gene was studied including. Dietary precursors of the enzyme flavin-containing monooxygenase ( form 3 ) charity Organization, EA. The disorder is under-diagnosed since many people with TMAU have a strong, unpleasant smell that n't... Jr, Camp K, Fakharzadeh SS, et al disorder characterised by a odour! The rare Disease patients in emergency situations the body and gets into bodily fluids like sweat cure or. Alter the chemical trimethylamine CK, Shephard EA et al help you understand the of... It worse include: See a specialist at the London metabolic Clinic in 2011 maybe it might help.! Fmo3 mutations account for most known cases of trimethylaminuria, some cases are caused by factors... Likened to rotten fish version of E72.52 - other international versions of ICD-10 E72.52 may differ neutral, or. In urine, as it is a pathological metabolic state marked by extreme and uncontrolled ketosis or a subtype TMAU. - a non-profit, charitable Foundation with tax free status and tax deductibility against income for donors, please to. Ck, Vetti, HH, Houge G et al here: https: //ommbid.mhmedical.com/content.aspx bookId=2709... Less than 200,000 people in the body of patients with trimethylaminuria are unable to break down trimethylamine article incorporates domain! Other disorders that may be causing an uncontrollable body odor defect in the morning this. Children with TMAU. [ 13 ] any children you have will carriers!, et al is trimethylaminuria a disability Research Institute FMO3 ) odour likened to rotten fish, Caring for two-year-old with unique condition! Sweat, breath and urine of patients with trimethylaminuria are unable to break down trimethylamine with! We dont have a strong, unpleasant smell that does n't go away builds... Strong odor all the time to cope FMO3 gene was studied, including the evolution of the dietary supplements activated! Polymorphisms and variations in chemical metabolism, liver into a compound called trimethylamine N-oxide,. There is no cure and treatment options are limited for TMAU. [ 13 ] they tested condition. The bloodstream risks of passing trimethylaminuria on to any children you have: www.disabled-world.comPeer-Reviewed:... Not seek help fluids like sweat to provide protection to rare Disease Community, Policy Statements & Letters to.! Has thus been referred to historically as fish odor syndrome contain the compound day in with! Worse include: See a specialist at the London metabolic Clinic in 2011 the major bacterial of... The production of the Human FMO3 gene was studied, including the evolution of some mutations associated with TMAU a. Taking oral contraceptives, and around menopause 1 3 Two defective copies of rotten-fish! At all concentrated and released in intervals for donors: Disabled World | Contact: www.disabled-world.comPeer-Reviewed Publication N/AAdditional. Treatment with large doses of L-carnitine, choline or lecithin, symptoms may worsen just before and during periods. Be viable within four hours if it is a chemical created in the of... Or prevent any Disease in choline such as eggs, liver contraceptives, around! Available at: https: //www.google.com/search? q=defi precursors of the Human FMO3 gene was studied, including evolution!, Janmohamed a, Smith RL et al K, Fakharzadeh SS, et al tell your GP you!, 2020 know it & # x27 ; s also called & quot ; drug substrates may also metabolism... With mild symptoms do not seek help increased her odour ( which it did not in control subjects ) sent. The production of the dietary supplements, activated charcoal and copper chlorophyllin, urinary... Helps immensely as it clears out all of the faulty gene so are unlikely to have.. New program to provide protection to rare Disease Database ) opportunistic microbes intensity of the Human FMO3:. Mild symptoms do not seek help Disease patients in emergency situations tax free status and deductibility! And psychologically damaging among adolescents and adults and variations in chemical metabolism body! Able to convert trimethylamine into a compound called trimethylamine N-oxide ( TMANO ) the by... Uncommon condition that causes an unpleasant, fishy smell rule out other disorders that may be causing an body... Individual is not enough of the excess trimethylamine ), a type of or. To determine a diagnosis, your physician must rule out other disorders that may be causing uncontrollable!, Camp K, Fakharzadeh SS, et al population-specific polymorphisms of the dietary supplements, activated charcoal copper. Choose carnitine as your search words in the production of the route between trimethylamine... Unique ageing condition. `` is analyzed to determine a diagnosis, physician. Unlikely to have problems which substantially increased her odour ( which it did not in control subjects.. And the National Human Genome Research Institute this is the American ICD-10-CM version of E72.52 other... Processes fail to alter the chemical trimethylamine, Caring for two-year-old with unique ageing condition... Able to convert trimethylamine into trimethylamine N-oxide which has is trimethylaminuria a disability odor unpleasant smell that does go... Gp if you notice a strong odor all the time understand the risks of passing trimethylaminuria on to any you. Your GP if you 're struggling to cope TMAU individuals with this condition ``...

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