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<meta name="keywords" content="C0342739, disease or syndrome, fish malodor syndrome, fish odor syndrome, fish odour syndrome, fish-odor syndrome, fmo3, high urine trimethylamine levels, non rare in europe: trimethylaminuria, primary trimethylaminuria, stale fish syndrome, tmau, tmauria, trimethylaminuria, trimethylaminuria (disease), autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="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. No physical symptoms are associated with trimethylaminuria. Affected individuals appear normal and healthy; however, the unpleasant odor often results in social and psychological problems. Symptoms are usually present from birth and may worsen during puberty. In females, symptoms are more severe just before and during menstruation, after taking oral contraceptives, and around the time of menopause." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=83350
|
||
ConceptID=C0342739
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Trimethylaminuria<span class="h1sub">(TMAU)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83350</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0342739</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Fish malodor syndrome; FISH-ODOR SYNDROME; Primary Trimethylaminuria; Stale fish syndrome; TMAU; TMAuria</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Trimethylaminuria (237959005); Fish odor syndrome (237959005)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="FMO3 - ID: 2328 - NCBI Gene" href="/gene/2328" class="medgenPMinfo">FMO3</a> (1q24.3)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0003614">HP:0003614</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011182" target="_blank">MONDO:0011182</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/602079" target="_blank">602079</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=35056">ORPHA35056</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
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<div class="portlet mgSection" id="ID_101">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1103" target="_blank">Primary Trimethylaminuria</a></div><div>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. No physical symptoms are associated with trimethylaminuria. Affected individuals appear normal and healthy; however, the unpleasant odor often results in social and psychological problems. Symptoms are usually present from birth and may worsen during puberty. In females, symptoms are more severe just before and during menstruation, after taking oral contraceptives, and around the time of menopause. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1103#trimethylaminuria.Summary" target="NBK1103">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1103#trimethylaminuria.Diagnosis" target="NBK1103">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1103#trimethylaminuria.Clinical_Characteristi" target="NBK1103">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1103#trimethylaminuria.Genetically_Related_Al" target="NBK1103">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1103#trimethylaminuria.Differential_Diagnosis" target="NBK1103">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1103#trimethylaminuria.Management" target="NBK1103">Management</a> | <a class="medgenPMinfo" href="/books/NBK1103#trimethylaminuria.Genetic_Counseling" target="NBK1103">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1103#trimethylaminuria.Resources" target="NBK1103">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1103#trimethylaminuria.Molecular_Genetics" target="NBK1103">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1103#trimethylaminuria.Chapter_Notes" target="NBK1103">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1103#trimethylaminuria.References" target="NBK1103">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Ian R Phillips | Elizabeth A Shephard <a href="/books/NBK1103" target="NBK1103" title="NCBI Bookshelf: Primary Trimethylaminuria">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Trimethylaminuria results from the abnormal presence of large amounts of volatile and malodorous trimethylamine within the body. This chemical, a tertiary aliphatic amine, is excreted in the urine, sweat (ichthyohidrosis), and breath, which take on the offensive odor of decaying fish (Mitchell, 1996). <a target="_blank" href="http://www.omim.org/entry/602079">http://www.omim.org/entry/602079</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />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. As this compound builds up in the body, it causes affected people to give off a strong fishy odor in their sweat, urine, and breath. The intensity of the odor may vary over time. The odor can interfere with many aspects of daily life, affecting a person's relationships, social life, and career. Some people with trimethylaminuria experience depression and social isolation as a result of this condition. <a target="_blank" href="https://medlineplus.gov/genetics/condition/trimethylaminuria">https://medlineplus.gov/genetics/condition/trimethylaminuria</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_83350"><div><strong>Trimethylaminuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83350</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0342739</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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. No physical symptoms are associated with trimethylaminuria. Affected individuals appear normal and healthy; however, the unpleasant odor often results in social and psychological problems. Symptoms are usually present from birth and may worsen during puberty. In females, symptoms are more severe just before and during menstruation, after taking oral contraceptives, and around the time of menopause.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/83350">Feature record</a> | <a href="/medgen?term=%22Trimethylaminuria%22%5BClinical%20Features%5D%20OR%2083350%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6969"><div><strong>Hypertensive disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6969</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0020538</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of chronic increased pressure in the systemic arterial system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6969">Feature record</a> | <a href="/medgen?term=%22Hypertensive%20disorder%22%5BClinical%20Features%5D%20OR%206969%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21453"><div><strong>Tachycardia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21453</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0039231</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rapid heartrate that exceeds the range of the normal resting heartrate for age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21453">Feature record</a> | <a href="/medgen?term=%22Tachycardia%22%5BClinical%20Features%5D%20OR%2021453%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4229"><div><strong>Depression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4229</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0011581</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4229">Feature record</a> | <a href="/medgen?term=%22Depression%22%5BClinical%20Features%5D%20OR%204229%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1526"><div><strong>Anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1526</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0002871</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A reduction in erythrocytes volume or hemoglobin concentration.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1526">Feature record</a> | <a href="/medgen?term=%22Anemia%22%5BClinical%20Features%5D%20OR%201526%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_195802"><div><strong>Recurrent pneumonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>195802</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0694550</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/195802">Feature record</a> | <a href="/medgen?term=%22Recurrent%20pneumonia%22%5BClinical%20Features%5D%20OR%20195802%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52469"><div><strong>Splenomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52469</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0038002</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal increased size of the spleen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52469">Feature record</a> | <a href="/medgen?term=%22Splenomegaly%22%5BClinical%20Features%5D%20OR%2052469%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_163121"><div><strong>Neutropenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>163121</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0853697</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally low number of neutrophils in the peripheral blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/163121">Feature record</a> | <a href="/medgen?term=%22Neutropenia%22%5BClinical%20Features%5D%20OR%20163121%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of blood and blood-forming tissues</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Anemia</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6969" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertensive disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21453" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tachycardia</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_83350" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Trimethylaminuria</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_163121" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neutropenia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Splenomegaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Depression</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_195802" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent pneumonia</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0342739[DISCUI]&test_type=Clinical" ref="ncbi_uid=83350">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=83350" target="_blank" href="/omim/136132">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1103/" ref="ncbi_uid=83350">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=83350" ref="ncbi_uid=83350">V</a></span></span><span class="TLline">Trimethylaminuria</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/52948" ref="tree=MeSH" title="MedGen record for Abnormality of the genitourinary system">Abnormality of the genitourinary system</a></span><ul><li><span class="TLline"><a href="/medgen/867444" ref="tree=MeSH" title="MedGen record for Abnormality of the urinary system">Abnormality of the urinary system</a></span><ul><li><span class="TLline"><a href="/medgen/869020" ref="tree=MeSH" title="MedGen record for Abnormality of the urinary system physiology">Abnormality of the urinary system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/871178" ref="tree=MeSH" title="MedGen record for Abnormality of urine homeostasis">Abnormality of urine homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/1785188" ref="tree=MeSH" title="MedGen record for Abnormal urine metabolite level">Abnormal urine metabolite level</a></span><ul><li><span class="matched_ds">Trimethylaminuria</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_83350"><div><strong>Trimethylaminuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>83350</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C0342739</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">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. No physical symptoms are associated with trimethylaminuria. Affected individuals appear normal and healthy; however, the unpleasant odor often results in social and psychological problems. Symptoms are usually present from birth and may worsen during puberty. In females, symptoms are more severe just before and during menstruation, after taking oral contraceptives, and around the time of menopause.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/83350">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_83350" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Trimethylaminuria</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31506554">NMR-based newborn urine screening for optimized detection of inherited errors of metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Embade N,
|
||
Cannet C,
|
||
Diercks T,
|
||
Gil-Redondo R,
|
||
Bruzzone C,
|
||
Ansó S,
|
||
Echevarría LR,
|
||
Ayucar MMM,
|
||
Collazos L,
|
||
Lodoso B,
|
||
Guerra E,
|
||
Elorriaga IA,
|
||
Kortajarena MÁ,
|
||
Legorburu AP,
|
||
Fang F,
|
||
Astigarraga I,
|
||
Schäfer H,
|
||
Spraul M,
|
||
Millet O</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2019 Sep 10;9(1):13067.
|
||
doi: 10.1038/s41598-019-49685-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31506554" target="_blank">31506554</a><a href="/pmc/articles/PMC6736868" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25335494">Clinical utility gene card for: Trimethylaminuria - update 2014.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shephard EA,
|
||
Treacy EP,
|
||
Phillips IR</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2015 Sep;23(9)
|
||
Epub 2014 Oct 22
|
||
doi: 10.1038/ejhg.2014.226.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25335494" target="_blank">25335494</a><a href="/pmc/articles/PMC4538216" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22126753">Clinical utility gene card for: trimethylaminuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shephard EA,
|
||
Treacy EP,
|
||
Phillips IR</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2012 Mar;20(3)
|
||
Epub 2011 Nov 30
|
||
doi: 10.1038/ejhg.2011.214.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22126753" target="_blank">22126753</a><a href="/pmc/articles/PMC3283181" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22trimethylaminuria%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (8)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/22126753">Clinical utility gene card for: trimethylaminuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shephard EA,
|
||
Treacy EP,
|
||
Phillips IR</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2012 Mar;20(3)
|
||
Epub 2011 Nov 30
|
||
doi: 10.1038/ejhg.2011.214.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22126753" target="_blank">22126753</a><a href="/pmc/articles/PMC3283181" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=" title="PubMed search"></a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33247860">Antiretroviral treatment leading to secondary trimethylaminuria: Genetic associations and successful management with riboflavin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scimone C,
|
||
Alibrandi S,
|
||
Donato L,
|
||
Giofrè SV,
|
||
Rao G,
|
||
Sidoti A,
|
||
D'Angelo R</span><br />
|
||
<span class="medgenPMjournal">J Clin Pharm Ther</span>
|
||
2021 Apr;46(2):304-309.
|
||
Epub 2020 Nov 28
|
||
doi: 10.1111/jcpt.13315.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33247860" target="_blank">33247860</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27126549">The complex metabolism of trimethylamine in humans: endogenous and exogenous sources.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chhibber-Goel J,
|
||
Gaur A,
|
||
Singhal V,
|
||
Parakh N,
|
||
Bhargava B,
|
||
Sharma A</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Mol Med</span>
|
||
2016 Apr 29;18:e8.
|
||
doi: 10.1017/erm.2016.6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27126549" target="_blank">27126549</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24247281">Archaebiotics: proposed therapeutic use of archaea to prevent trimethylaminuria and cardiovascular disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brugère JF,
|
||
Borrel G,
|
||
Gaci N,
|
||
Tottey W,
|
||
O'Toole PW,
|
||
Malpuech-Brugère C</span><br />
|
||
<span class="medgenPMjournal">Gut Microbes</span>
|
||
2014 Jan-Feb;5(1):5-10.
|
||
Epub 2013 Oct 31
|
||
doi: 10.4161/gmic.26749.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24247281" target="_blank">24247281</a><a href="/pmc/articles/PMC4049937" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10479479">Trimethylaminuria is caused by mutations of the FMO3 gene in a North American cohort.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Akerman BR,
|
||
Lemass H,
|
||
Chow LM,
|
||
Lambert DM,
|
||
Greenberg C,
|
||
Bibeau C,
|
||
Mamer OA,
|
||
Treacy EP</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
1999 Sep;68(1):24-31.
|
||
doi: 10.1006/mgme.1999.2885.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10479479" target="_blank">10479479</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/987531">Trimethylaminuria: fishy odors in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee CW,
|
||
Yu JS,
|
||
Turner BB,
|
||
Murray KE</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
1976 Oct 21;295(17):937-8.
|
||
doi: 10.1056/NEJM197610212951706.
|
||
<span class="bold">PMID: </span><a href="/pubmed/987531" target="_blank">987531</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Trimethylaminuria%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (19)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34597008">Trimethylaminuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kloster I,
|
||
Erichsen MM</span><br />
|
||
<span class="medgenPMjournal">Tidsskr Nor Laegeforen</span>
|
||
2021 Sep 28;141
|
||
Epub 2021 Sep 10
|
||
doi: 10.4045/tidsskr.21.0142.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34597008" target="_blank">34597008</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27118741">Trimethylaminuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sabir N,
|
||
Jones EA,
|
||
Padmakumar B</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2016 Apr 26;2016
|
||
doi: 10.1136/bcr-2015-213742.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27118741" target="_blank">27118741</a><a href="/pmc/articles/PMC4854139" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21422137">Fish odour syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li M,
|
||
Al-Sarraf A,
|
||
Sinclair G,
|
||
Frohlich J</span><br />
|
||
<span class="medgenPMjournal">CMAJ</span>
|
||
2011 May 17;183(8):929-31.
|
||
Epub 2011 Mar 21
|
||
doi: 10.1503/cmaj.100642.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21422137" target="_blank">21422137</a><a href="/pmc/articles/PMC3091902" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11488130">Extraoral etiology of halitosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tomás Carmona I,
|
||
Limeres Posse J,
|
||
Diz Dios P,
|
||
Fernández Feijoo J,
|
||
Vázquez García E</span><br />
|
||
<span class="medgenPMjournal">Med Oral</span>
|
||
2001 Jan-Feb;6(1):40-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11488130" target="_blank">11488130</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6796765">Trimethylaminuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spellacy E,
|
||
Watts RW,
|
||
Goolamali SK</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
1980;2(4):85-8.
|
||
doi: 10.1007/BF01805663.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6796765" target="_blank">6796765</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Trimethylaminuria%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (61)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30014588">Something fishy going on.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McConnell A,
|
||
Bonnin R,
|
||
Bellis W</span><br />
|
||
<span class="medgenPMjournal">Emerg Med Australas</span>
|
||
2018 Oct;30(5):727-728.
|
||
Epub 2018 Jul 16
|
||
doi: 10.1111/1742-6723.13143.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30014588" target="_blank">30014588</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23729777">Index of suspicion.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tarchichi T,
|
||
Wong K,
|
||
Fisher MM,
|
||
Palomo P,
|
||
Zapata F,
|
||
Bawle EV</span><br />
|
||
<span class="medgenPMjournal">Pediatr Rev</span>
|
||
2013 Jun;34(6):280-4.
|
||
doi: 10.1542/pir.34-6-280.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23729777" target="_blank">23729777</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21422137">Fish odour syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li M,
|
||
Al-Sarraf A,
|
||
Sinclair G,
|
||
Frohlich J</span><br />
|
||
<span class="medgenPMjournal">CMAJ</span>
|
||
2011 May 17;183(8):929-31.
|
||
Epub 2011 Mar 21
|
||
doi: 10.1503/cmaj.100642.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21422137" target="_blank">21422137</a><a href="/pmc/articles/PMC3091902" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22253964">The amelioration of olfactory acuity upon sexual maturation might affect food preferences.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bignetti E,
|
||
Sinesio F,
|
||
Aiello GL,
|
||
Cannella C</span><br />
|
||
<span class="medgenPMjournal">Nutrients</span>
|
||
2009 Jan;1(1):3-17.
|
||
Epub 2009 Jun 10
|
||
doi: 10.3390/nu1010003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22253964" target="_blank">22253964</a><a href="/pmc/articles/PMC3257167" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9002736">Halitosis. A common oral problem.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Spielman AI,
|
||
Bivona P,
|
||
Rifkin BR</span><br />
|
||
<span class="medgenPMjournal">N Y State Dent J</span>
|
||
1996 Dec;62(10):36-42.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9002736" target="_blank">9002736</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Trimethylaminuria%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (29)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/25335494">Clinical utility gene card for: Trimethylaminuria - update 2014.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shephard EA,
|
||
Treacy EP,
|
||
Phillips IR</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2015 Sep;23(9)
|
||
Epub 2014 Oct 22
|
||
doi: 10.1038/ejhg.2014.226.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25335494" target="_blank">25335494</a><a href="/pmc/articles/PMC4538216" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22819296">Variants in the flavin-containing monooxygenase 3 (FMO3) gene responsible for trimethylaminuria in a Japanese population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shimizu M,
|
||
Kobayashi Y,
|
||
Hayashi S,
|
||
Aoki Y,
|
||
Yamazaki H</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2012 Nov;107(3):330-4.
|
||
Epub 2012 Jul 1
|
||
doi: 10.1016/j.ymgme.2012.06.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22819296" target="_blank">22819296</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11266081">A novel deletion in the flavin-containing monooxygenase gene (FMO3) in a Greek patient with trimethylaminuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Forrest SM,
|
||
Knight M,
|
||
Akerman BR,
|
||
Cashman JR,
|
||
Treacy EP</span><br />
|
||
<span class="medgenPMjournal">Pharmacogenetics</span>
|
||
2001 Mar;11(2):169-74.
|
||
doi: 10.1097/00008571-200103000-00007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11266081" target="_blank">11266081</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10646019">Fish odor syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rehman HU</span><br />
|
||
<span class="medgenPMjournal">Postgrad Med J</span>
|
||
1999 Aug;75(886):451-2.
|
||
doi: 10.1136/pgmj.75.886.451.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10646019" target="_blank">10646019</a><a href="/pmc/articles/PMC1741321" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/987531">Trimethylaminuria: fishy odors in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee CW,
|
||
Yu JS,
|
||
Turner BB,
|
||
Murray KE</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
1976 Oct 21;295(17):937-8.
|
||
doi: 10.1056/NEJM197610212951706.
|
||
<span class="bold">PMID: </span><a href="/pubmed/987531" target="_blank">987531</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Trimethylaminuria%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (13)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29116146">Inactivation mechanism of N61S mutant of human FMO3 towards trimethylamine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gao C,
|
||
Catucci G,
|
||
Castrignanò S,
|
||
Gilardi G,
|
||
Sadeghi SJ</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2017 Nov 7;7(1):14668.
|
||
doi: 10.1038/s41598-017-15224-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29116146" target="_blank">29116146</a><a href="/pmc/articles/PMC5676948" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25870212">Fish Malodour syndrome in a child.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oliveira A,
|
||
Faria A,
|
||
Oliva M</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2015 Apr 13;2015
|
||
doi: 10.1136/bcr-2014-207002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25870212" target="_blank">25870212</a><a href="/pmc/articles/PMC4401951" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17257434">Transient trimethylaminuria related to menstruation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shimizu M,
|
||
Cashman JR,
|
||
Yamazaki H</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genet</span>
|
||
2007 Jan 27;8:2.
|
||
doi: 10.1186/1471-2350-8-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17257434" target="_blank">17257434</a><a href="/pmc/articles/PMC1790885" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15043988">Effects of the dietary supplements, activated charcoal and copper chlorophyllin, on urinary excretion of trimethylamine in Japanese trimethylaminuria patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yamazaki H,
|
||
Fujieda M,
|
||
Togashi M,
|
||
Saito T,
|
||
Preti G,
|
||
Cashman JR,
|
||
Kamataki T</span><br />
|
||
<span class="medgenPMjournal">Life Sci</span>
|
||
2004 Apr 16;74(22):2739-47.
|
||
doi: 10.1016/j.lfs.2003.10.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15043988" target="_blank">15043988</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12466292">A nonsense mutation in the FMO3 gene underlies fishy off-flavor in cow's milk.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lundén A,
|
||
Marklund S,
|
||
Gustafsson V,
|
||
Andersson L</span><br />
|
||
<span class="medgenPMjournal">Genome Res</span>
|
||
2002 Dec;12(12):1885-8.
|
||
doi: 10.1101/gr.240202.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12466292" target="_blank">12466292</a><a href="/pmc/articles/PMC187563" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Trimethylaminuria%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (24)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
||
|
||
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|
||
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|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
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<div class="rightCol mgCol">
|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0342739%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (13)</a></li>
|
||
<li><a href="/gtr/tests?term=C0342739%5bDISCUI%5d&filter=method%3A2%5F12" target="_blank">Microsatellite instability testing (MSI) (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0342739%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C0342739%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0342739%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0342739%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (20)</a></li>
|
||
<li><a href="/gtr/tests?term=C0342739%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0342739%5bDISCUI%5d" target="_blank">See all (24)</a></total></li>
|
||
</ul></div>
|
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</div>
|
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|
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<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=602079" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=35056" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Trimethylaminuria" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
|
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|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22trimethylaminuria%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov//22126753/">EuroGenetest, 2011</a><div>Clinical utility gene card for: trimethylaminuria.</div></li></ul></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d5244ecde49f3df7f68a07">Trimethylaminuria</a>
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<div class="ralinkpop offscreen_noflow">RecName: Full=Flavin-containing monooxygenase 3; AltName: Full=Dimethylaniline monooxygenase [N-oxide-forming] 3; AltName: Full=Dimethylaniline oxidase 3; AltName: Full=FMO II; AltName: Full=FMO form 2; AltName: Full=Hepatic flavin-containing monooxygenase 3; Short=FMO 3; AltName: Full=Trimethylamine monooxygenase<div class="brieflinkpopdesc">gi|6166183|sp|P31513.5|FMO3_HUMAN</div></div>
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<div class="ralinkpop offscreen_noflow">FMO6P flavin containing dimethylaniline monoxygenase 6, pseudogene [Homo sapiens]<div class="brieflinkpopdesc">Gene ID:388714</div></div>
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