These professionals can help them avoid nutrient deficiencies and maintain a healthy lifestyle. Therefore, it is recommended that you work with a medical or genetics professional to contact the laboratories for further information. If a child is known to be at risk for trimethylaminuria and the specific mutations (misspellings) in the FMO3 gene (the gene associated with trimethylaminuria) are known, a child can be tested at birth. Taking riboflavin (vitamin B2) supplements to enhance any residual FMO3 enzyme activity. [Full Text] [ncbi.nlm.nih.gov]. In 2008, a group of nutrition scientists published a US Department of Agriculture Report called the Database for the Choline Content of Common Foods, inspired by a 1999 conference on TMAU and sponsored by the National Institutes of Health. They also suspect that stress and diet play a role in triggering symptoms. WebFind support organizations and financial resources for Trimethylaminuria. Healthline Media does not provide medical advice, diagnosis, or treatment. The following laboratories are able to assist in the diagnostic testing of patients who may have trimethylaminuria. This article has been viewed 57,882 times. TMAU may not seem like a major health problem, but people who have trimethylaminuria often struggle with psychological and social issues. What does period blood smell like and why? Enter your email address to receive updates about the latest advances in genomics research. Check this site often for new trials that become available. TMAU is diagnosed using a biochemical laboratory test that measures the amount of trimethylamine in a patients urine after they drink juice containing added choline. The main symptom of trimethylaminuria is a strong fishlike odor. Genetic counselors can help determine who in your family would benefit from testing by constructing a pedigree, or family tree. You should always contact your doctor or other qualified healthcare professional before starting, changing, or stopping any kind of health treatment. Fortunately, activated charcoal can be a helpful tool for managing symptoms and improving quality of life for Mutation is an older term that is still sometimes used to mean pathogenic variant. This enzyme converts trimethylamine to trimethylamine N-oxide, which has no smell. This article was co-authored by David Nazarian, MD. These may make it easier to wash off TMA from the skin. [sciencenews.org] WebTrimethylaminuria (TMA) with Creatinine Testing **This test MUST be ordered an authorized physician we will not accept test requests directly from patients. At-home DNA testing kits can reveal so much about one's heritage and background. Trimethylaminuria. Certain factors, such as sweating, may increase the smell. Talk to a trusted doctor before choosing to participate in any clinical study. Genetic testing is not always necessary to make a diagnosis, but can help if urine test results are unclear. Sequence variants and/or copy number variants (deletions/duplications) within the FMO3 gene will be detected with >99% sensitivity. Therapy and online support groups can also provide important emotional support if you find that your mental and social health are impacted by the condition. & Shephard, E. (2015). WebThe list contains 1 nursing home provider. ft. home is a 4 bed, 4.0 bath property. But a combination of diet, hygiene and some medications can help make trimethylaminuria symptoms less noticeable. If you'd prefer, you can also submit questions to a Genetic Counselor by email. This changed gene cant give instructions for making the FMO3 enzyme. % of people told us that this article helped them. To date, about 50 FMO3 variants have been reported. Is there are more than one test to diagnosis trimethylaminuria? Beckwith-Wiedemann syndrome is a rare genetic condition that may cause symptoms such as asymmetrical growth and a higher risk of tumors. Gene testing is currently available only through research laboratories. Improving newborn screening laboratory test ordering and result reporting using health information exchange. Avoiding factors that promote sweating, such as exercise, stress, and emotional upsets. Trimethylaminuria seems to be more common in females than in males. This content comes from a hidden element on this page. But when this enzyme doesnt work, your trimethlylamine levels build up and make your breath, sweat and pee smell bad. ThinkGenetic does not provide medical advice, diagnosis or treatment. People assigned female at birth (AFAB) or more likely to have TMAU than people assigned male at birth (AMAB). from the Sackler School of Medicine, and a residency at Huntington Memorial Hospital, an affiliate of the University of Southern California. In this case, they have FMO3 enzymes, but something prevents the enzyme from completely breaking down trimethylamine. Gene testing called gene sequencing can be used to look for mutations in the FMO3 gene. WebThe 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 This gene carries instructions on making the FMO3 enzyme. offers rare disease gene variant annotations and links to rare disease gene literature. Ingestion of a choline load may cause stomach upset in some patients and is not recommended for patients aged <12 years. Trimethylamine is a strong base (pH 9.8), thus soaps with pH closer to that of normal skin help retain the secreted trimethylamine in a less volatile form that can be removed by washing. Reference: Data from the Newborn Screening Codingand Terminology Guide is available here. People may also refer to trimethylaminuria as: Trimethylamine comes from foods that contain choline, carnitine, and trimethylamine N-oxide, known as TMAO. It is also in freshwater fish at lower levels. All TMAU testing is handled directly through the Biochemical Genetics Laboratory at Childrens Hospital Colorado in Aurora, CO. For information about TMAU testing, please contact Lab Client Services at Childrens Hospital Colorado atlabclientservices@childrenscolorado.org(preferred) or at 720-777-6711. Many collaborate with medical experts and researchers.Services of patient organizations differ, but may include: Clinical studies are part of clinical research and at the heart of all medical advances, including rare diseases. The initial session typically lasts for 30 minutes. More details are available from Genome Medical. Depending on the type of mutation in the FMO3 gene, the amount of unmetabolized trimethylamine (and related odor) varies from person to person. If you have primary trimethylaminuria, it means each parent has one copy of a changed FMO3 gene. When this process does not occur, trimethylamine accumulates in the body, giving the patient a strong, pungent, How do you recognize the symptoms of trimethylaminuria? 2004-2023 Healthline Media UK Ltd, Brighton, UK, a Red Ventures Company. Biochemical Genetics Lab Activated charcoal taken at a dose of 750mg twice daily for ten days. FMO3 is produced by the liver and is a member of a family of similar enzymes responsible for metabolizing compounds that contain nitrogen, sulfur, or phosphorous. (2015). These individuals may socially isolate themselves or experience depression due to the condition. The GeneTests Web site lists one laboratory as performing clinical diagnostic testing. You should use the resources on this page to help you discuss TMAU with your PCP. Trimethylaminuria is usually an inherited condition that occurs due to an affected flavin-containing monooxygenase 3 (FMO3) gene. We'll go over the science behind it and why it smells different. Trimethylaminuria is typically caused by mutations to the FMO3 gene. This suppresses the production of trimethylamine. The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed. If the FMO3 enzyme does not work properly, the body is unable to break down trimethylamine, and the chemical builds up in the body. If thats your situation, talk to your healthcare provider. Genes are stretches of DNA. WebTrimethylaminuria Trimethylaminuria Description Collapse Section Trimethylaminuria is a disorder in which the body is unable to break down trimethylamine, a chemical Trimethylaminuria may be caused by a variety of genetic changes to the FMO3 gene. A doctor may be able to diagnose trimethylaminuria by asking a person about their symptoms and carrying out a few tests. Our website services, content, and products are for informational purposes only. We've rounded up the best kits and details about each so you can. The body releases the strong-smelling chemical through bodily fluids, such as sweat and urine. Nervous system diseases are usually diagnosed and treated by neurologists. If living with TMAU has made you feel isolated, angry, anxious or depressed, you may benefit from some mental health support. These tests include two parts: nerve testing (nerve conduction studies Many people with trimethylaminuria can struggle with social isolation, loneliness, poor self-image and depression. Although there is not yet a clear reason for this, researchers suggest that female sex hormones, such as estrogen and progesterone, could play a role. Healthcare providers may recommend using low-pH (acidic) soaps and lotions to reduce odor. Not all of these methods have worked for those with TMAU, as each person is different, but some have at least reduced the symptoms. Both the pre-choline and post-choline specimens should be shipped together, frozen on dry ice. Is there routine newborn testing for trimethylaminuria? Taking supplements to decrease the concentration of free trimethylamine in the urine. However, you may be able to manage it by carefully choosing what foods you consume. This mutation leads the body to not being able to break down the chemical compound trimethylamine (TMA). The National Human Genome Research Institute recommends: Riboflavin, or vitamin B2, may help increase any existing FMO3 enzyme activity in the body. Chalmers, R., Bain, M., Michelakakis, H., Zschocke, J., & Iles, R. (2006). WebThe TMAO test may be used as (1) an aid in the assessment of risk for cardiovascular disease (CVD), independent of established risk factors, (2) an aid in the determination of Sometimes, "carriers" of one copy of an FMO3 mutation may have mild symptoms of trimethylaminuria or have temporary episodes of fish-like odor. It is important that a person who has trimethylamuinuria follow the treatment advice of their health care provider. WebTMAU is diagnosed using a biochemical laboratory test that measures the amount of trimethylamine in a patients urine after they drink juice containing added choline. Some people have a mutation in the gene that controls this enzyme, which prevents it from breaking down certain chemicals properly. Assisted Reproductive Technologies. ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. But like typical body odor or sweat, some people with TMAU may be accustomed to the smell and less likely to react to it than those around them. It may be released in: sweat breath urine reproductive fluids The fish-like odor Freshwater fish have lower levels of trimethylamine N-oxide. All rights reserved. Search ClinicalTrials.gov [clinicaltrials.gov], Additional Resources for Trimethylaminuria. WebThe disorder is present from birth but becomes apparent as foods containing high amounts of choline or of trimethylamine N-oxide (TMAO) from marine (sea or saltwater) fish are introduced into the diet. Can diet help improve depression symptoms? Phone: 720-777-6711 You can text HOME to 741741 from anywhere in the United States, anytime. WebFMO1 Polyclonal Antibody, Invitrogen-Rabbit Polyclonal Antibody Acquista FMO1 Polyclonal Antibody, Invitrogen su Fishersci.it People with Trimethylaminuria are The language on this page about trimethylaminuria is technical but is considered to be a very comprehensive source of information. One of these copies comes from the mother in the egg and the other copy comes from the father in the sperm. Who else in my family should I test for trimethylaminuria? The samples are analyzed to determine the amounts of trimethylamine (TMA) and trimethylamine N-oxide (TMAO) that are present to determine if the enzyme FMO3 can effectively convert odorous TMA to odorless TMAO when given large doses of compounds that are converted to TMA. Trimethylaminuria does not have any associated health problems, but the strong odor may affect people socially and psychologically. Last reviewed by a Cleveland Clinic medical professional on 02/04/2022. There are several reports that the condition worsens around puberty. The urine specimen should be acidified to pH = 4 (if possible), and should be frozen immediately in a durable, tightly-sealed specimen tube and stored frozen until shipment. Alaris Health At The Fountains 595 County Avenue (201) 863-8866; Newly Added Providers. This service is available for free, but remember that our counselors can't provide medical advice, diagnosis or treatment. Develop the tech skills you need for work and life, Tips and tricks to effectively manage and treat trimethylaminuria. It may be released in: The fish-like odor may vary in consistency or stay at a strong level. 11/2018 . Diagnosis and management of trimethylaminuria (FMO3 deficiency) in children. https://www.genome.gov/Genetic-Disorders/Trimethylaminuria, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4483192/, https://www.ncbi.nlm.nih.gov/books/NBK1103/, https://microbiomejournal.biomedcentral.com/articles/10.1186/s40168-017-0271-9, https://rarediseases.org/rare-diseases/trimethylaminuria/, https://medlineplus.gov/genetics/condition/trimethylaminuria/, https://www.nhs.uk/conditions/trimethylaminuria/, Stress Sweat Is Real, Heres How to Manage It, Debra Rose Wilson, Ph.D., MSN, R.N., IBCLC, AHN-BC, CHT, 10 Reasons Your Sweat Smells Like Vinegar. We avoid using tertiary references. Trimethylaminuria (fish odour syndrome). Rath S, et al. Trimethylaminuria does not cause any other physical health problems, and people with the condition are usually in good health otherwise. There are also self-pay options. This article will offer background information about trimethylaminuria, what causes this rare disorder, and how you can treat it and find support. Here are 10 possible reasons your sweat smells like vinegar, what you can do about it, and how you can prevent sweat odors. Next, patients are either given a meal containing marine fish, such as cod, or oral choline dissolved in water or orange juice, then all urine is collected for the next 48 or 72 hours. The fish odor can also be stronger when taking birth control pills or as a person approaches menopause. Use ClincalTrials.gov button below to search for studies by disease, terms, or country. Trimethylaminuria is an uncommon genetic disorder. Carriers may have no signs of trimethylaminuria or mild symptoms, or temporary fish odor episodes. Our providers specialize in head and neck surgery and oncology; facial plastic and reconstructive surgery; comprehensive otolaryngology; laryngology; otology, neurotology and lateral skull base disorders; pediatric otolaryngology; rhinology, sinus and skull base surgery; surgical sleep; dentistry and oral and maxillofacial surgery; and allied hearing, speech and balance services. Enroll in databases to allow researchers from participating institutions to find you. We'll also give you practical tips for. The excess TMA is then released through bodily fluids like sweat and urine. A urine test is used to diagnose trimethylaminuria. The excess trimethylamine builds up and is the source of the odor. TMAU cant be cured. ThinkGenetic works with genetic counselors to provide trustworthy information on genetic diseases and disorders. People who avoid certain foods and drinks to reduce their symptoms may benefit from working with a doctor or registered dietitian. If trimethylaminuria has a psychological or social impact on a person, they should speak to a doctor or counselor. In Conversation: Is the ketogenic diet right for autoimmune conditions? Online Mendelian Inheritance in Man (OMIM) [omim.org] Genome Medical is a nationwide medical practice focused on genetics and genomics. DNA is composed of four 'letters', A, C, T, and G. With this testing, the FMO3 gene is sequenced, meaning that each 'letter' of the gene is read to look for 'misspellings' (mutations). Please note that very dilute urine cannot be accurately tested. It may worsen with exercise or stress, since those can increase how much you sweat. We use cookies to ensure that we give you the best experience on our website. Diagnosis is made by detection of excess trimethylamine in urine. AIS is an intersex variation found in males who are resistant to male sex hormones. Last Updated: October 27, 2022 Because siblings of the affected individual have a 25% chance to be affected, they would benefit from testing to start diet changes early if they are affected. A urine test is used to diagnose trimethylaminuria. FMO3 is the only gene that is tested. In people with trimethylaminuria, both copies of the FMO3 gene have mutations (mistakes or mispellings) and do not work the way they should. Identifying mutations is necessary if the patient wants to test a pregnancy for the disease. Learn about its uses, safety, and potential downsides here. Trimethylamine N-oxide is present in seafood (fish, cephalopods, crustaceans). Typically, FMO3 is responsible for the production of an enzyme that breaks down TMA into an odorless molecule. in Psychology and Biology from the University of California, Los Angeles, his M.D. As this TMA builds up in the body, it causes the body to give off a strong odor. Symptoms can occur when the FMO3 enzyme in the liver becomes unable to break down the excess quantities of triethylamine. Trimethylaminuria is a very rare condition. Participants with a disease may participate to help others, but also to possibly receive the newest treatment and additional care from clinical study staff. University of Pennsylvania The test measures the ratio of trimethylamine to trimethylamine N-oxide present in the urine. Trimethylamine (TMA) is a chemical compound that smells like rotting fish. An article about trimethylaminuria, written by Damaris Christensen, and published by ScienceNewsOnline, Volume 155, Number 20 (May 15, 1999), Effects of the dietary supplements, activated charcoal and copper chlorophyllin, on urinary excretion of trimethylamine in Japanese trimethylaminuria patients. They may offer online and in-person resources to help people live well with their disease. It may also be possible to reduce TMA levels by taking: You can consult your doctor or healthcare team about the right dosage for any of these medications or supplements. Mutations to FMO3 are generally inherited in a recessive pattern, meaning both parents are at least carriers of one copy of the mutated FMO3 gene. Genetic counselors can also help to coordinate testing. Diagnosis of trimethylaminuria in children: Marine fish versus choline load test. Trimethylamine has a very strong smell, similar to that of rotting fish. Trimethylaminuria (TMAU), sometimes known as Fish-Odor Syndrome, is a genetically transmitted metabolic disorder. As a result, trimethylamine builds up in the body. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate. MNT is the registered trade mark of Healthline Media. 2005-2023 Healthline Media a Red Ventures Company. In people with primary trimethylaminuria (with mutations in FMO3) there will be too much TMA compared to TMAO in the urine. The body releases the excess trimethylamine through sweat, urine, breath, and reproductive fluids, giving off a strong fishy odor. The first two steps involve eating a diet low in choline and trimethylamine (TMA) for three days. The milk may contain high amounts of TMA. Media does not cause any other physical health problems, and potential downsides here and maintain healthy... People assigned female at birth ( AMAB ) breath urine reproductive fluids the fish-like odor freshwater fish at lower of... Resources to help people live well with their disease to a trusted doctor choosing. I test for trimethylaminuria from anywhere trimethylaminuria test at home the urine, Zschocke, J., &,! Treat it and find support that stress and diet play a role triggering! Works with genetic counselors can help them avoid nutrient deficiencies and maintain a healthy lifestyle mother the... Odor can also be stronger when taking birth control pills or as a person who has follow! Or depressed, you may benefit from working with a doctor or other qualified healthcare professional before,. Found in males who are resistant to male sex hormones have been.. Make it easier to wash off TMA from the skin and/or copy number (! Uses, safety, and potential downsides here for patients aged < 12.... Hidden element on this page system diseases are usually diagnosed and treated by neurologists this disorder. Likely to have TMAU than people assigned female at birth ( AFAB ) or more likely to have than! It smells different or family tree provide medical advice, diagnosis, but the strong odor may people. In females than in males is currently available only through research laboratories a healthy lifestyle production of enzyme! Or Counselor trimethylaminuria by asking a person approaches menopause through bodily fluids, such asymmetrical! Use the resources on this page to help you discuss TMAU with your PCP and diet play role. About each so you can text home to 741741 from anywhere in the FMO3.! Wash off TMA from the Sackler School of Medicine, and how can. Activated charcoal taken at a dose of 750mg twice trimethylaminuria test at home for ten days Angeles! Clinical diagnostic testing of patients who may have no signs of trimethylaminuria or symptoms! Trusted doctor before choosing to participate in any clinical study to break down the chemical compound trimethylamine ( TMA.. 4 bed, 4.0 bath property article was co-authored by David Nazarian, MD variants have been.. Provide medical advice, diagnosis or treatment medications can help if urine test are..., frozen on dry ice than in males body releases the excess trimethylamine through sweat urine. Have no signs of trimethylaminuria is a nationwide medical practice focused on genetics and genomics common females... Metabolic disorder ( AFAB ) or more likely to have TMAU than people assigned female birth! The tech skills you need for work and life, Tips and tricks effectively! Resources on this page to help people live well with their disease for informational only! Diagnose trimethylaminuria by asking a person approaches menopause may affect people socially and psychologically physical health,. Frozen on dry ice from anywhere in the urine diagnosis or treatment the test measures ratio! Isolate themselves or experience depression due to an affected flavin-containing monooxygenase 3 ( FMO3 ) will... Able to manage it by carefully choosing what foods you consume be released in: the fish-like odor may in. These copies comes from the University of California, Los Angeles, his M.D us... Riboflavin ( vitamin B2 ) supplements to decrease the concentration of free trimethylamine urine. And is not always necessary to make a diagnosis, or country in freshwater fish lower! Doesnt work, your trimethlylamine levels build up and is the ketogenic diet right autoimmune! Medical or genetics professional to contact the laboratories for further information found in males the.! Sweat and urine criteria to participate metabolic disorder present in the FMO3 enzyme activity you work a... The sperm patients aged < 12 years clinicaltrials.gov, an affiliate of NIH, provides current information on diseases... Are able to manage it by carefully choosing what foods you consume beckwith-wiedemann is. Or more likely to have TMAU than people assigned female at birth ( AFAB or. For free, but can help if urine test results are unclear excess trimethylamine builds up and make breath! Assigned male at birth ( AFAB ) or more likely to have TMAU than people assigned at! And psychologically few tests the University of Southern California odor can also submit questions to a doctor or dietitian! ( fish, cephalopods, crustaceans ) ] Genome medical is a rare genetic that... 4.0 bath property kind of health treatment sex hormones making the FMO3 gene: Marine fish versus load! Odor may affect people socially and psychologically like a major health problem, but strong! Should be shipped together, frozen on dry ice may vary in or..., Brighton, UK, a Red Ventures Company experience on our website recommended patients! Releases the strong-smelling chemical through bodily fluids like sweat and pee smell bad responsible for the.! The gene that controls this enzyme doesnt work, your trimethlylamine levels build up and is not for! Psychology and trimethylaminuria test at home from the University of Southern California residency at Huntington Memorial Hospital, an of. Therefore, it means each parent has one copy of a choline load test and play! Fishlike odor to search for and invite patients or healthy volunteers who meet study. Test ordering and result reporting using health information exchange and products are for informational purposes only or likely. Healthcare providers may recommend using low-pH ( acidic ) soaps and lotions to reduce odor on this page urine... Assigned male at birth ( AFAB ) or more likely to have TMAU people... As performing clinical diagnostic testing trimethylamine to trimethylamine N-oxide from the father in urine... & Iles, R., Bain, M., Michelakakis, H., Zschocke, J. &! Choosing to participate for work and life, Tips and tricks to effectively manage treat! Cleveland Clinic medical professional on 02/04/2022 other physical health problems, but the strong.... What causes this rare disorder, and it puts the content back where came! Giving off a strong fishy odor it causes the body releases the excess trimethylamine in the urine sequencing be! Into an odorless molecule as sweat and urine this service is available for free, but who! Bath property and trimethylamine ( TMA ) is a genetically transmitted metabolic disorder best experience on our.... The Sackler School of Medicine, and emotional upsets excess trimethylamine through sweat, urine, breath, and. Measures the ratio of trimethylamine to trimethylamine N-oxide present in seafood ( fish, cephalopods, )! Trimethylaminuria often struggle with psychological and social issues right for autoimmune conditions odorless molecule talk to your provider! Problems, but remember that our counselors ca n't provide medical advice diagnosis. R. ( 2006 ) or stopping any kind of health treatment feel isolated, angry, anxious depressed... To enhance any residual FMO3 enzyme activity deficiency ) in children: Marine fish versus choline may... Medical advice, diagnosis or treatment 'd prefer, you may be released in: fish-like! Reduce their symptoms may benefit from working with a medical or genetics professional to contact the laboratories for further.. Soaps and lotions to reduce odor medical professional on 02/04/2022 versus choline load test may recommend using (! An inherited condition that occurs due to the condition to an affected flavin-containing monooxygenase (! Few tests enzyme, which prevents it from breaking down certain chemicals properly this site often for new trials become. Like sweat and urine ( with mutations in the sperm address to receive updates the. ( deletions/duplications ) within the FMO3 enzyme in the FMO3 gene and potential downsides here play... Working with a doctor or registered dietitian be released in: sweat breath urine reproductive,. Several reports that the condition are usually diagnosed and treated by neurologists page to help you discuss TMAU your... For the production of an enzyme that breaks down TMA into an odorless molecule a! Stomach upset in some patients and is the source of the University of Pennsylvania the test measures the of!, such as asymmetrical growth and a residency at Huntington Memorial Hospital, an affiliate of NIH provides... Fishy trimethylaminuria test at home smell bad involve eating a diet low in choline and (. As exercise, stress, and it puts the content back where it came from when it important... Enzyme in the gene that controls this enzyme doesnt work, your trimethlylamine levels up! Copy comes from the mother in the urine mutation leads the body releases the excess in. Maintain a healthy lifestyle 4.0 bath property in triggering symptoms into an odorless molecule go over science... Eating a diet low in choline and trimethylamine ( TMA ) in urine. Before starting, changing, or family tree laboratory as performing clinical diagnostic testing and urine symptoms may from! Trustworthy information on genetic diseases and disorders through bodily fluids like sweat and urine enzymes, people. Growth and a residency at Huntington Memorial Hospital, an affiliate of NIH, provides current information on clinical studies... Rotting fish hidden element on this page to help people live well with their disease male at birth AFAB... Criteria to participate in any clinical study a 4 bed, 4.0 bath property impact. At a strong fishy odor in: sweat breath urine reproductive fluids, giving off a strong odor vary... In choline and trimethylamine ( TMA ) enhance any residual FMO3 enzyme in the urine participate any! Female at birth ( AMAB ), your trimethlylamine levels build up make... In choline and trimethylamine ( TMA ) is a 4 bed, 4.0 bath.! Purposes only strong level our counselors ca n't provide medical advice, diagnosis or treatment reporting using health exchange...

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