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<!--
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UID=742296
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ConceptID=C1879362
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hypertyrosinemia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>742296</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.">C1879362</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>Elevated tyrosine blood level; Increased tyrosine in blood; Tyrosinemia</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hypertyrosinemia (56595005); Elevated tyrosine blood level (56595005)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0003231">HP:0003231</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">An increased concentration of tyrosine in the blood. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<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>
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<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="TLline">Hypertyrosinemia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1864085" ref="tree=MeSH" title="MedGen record for Abnormal circulating organic compound concentration">Abnormal circulating organic compound concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1684666" ref="tree=MeSH" title="MedGen record for Abnormal circulating carboxylic acid concentration">Abnormal circulating carboxylic acid concentration</a></span><ul><li><span class="TLline"><a href="/medgen/871177" ref="tree=MeSH" title="MedGen record for Abnormal circulating amino acid concentration">Abnormal circulating amino acid concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1728653" ref="tree=MeSH" title="MedGen record for Abnormal circulating proteinogenic amino acid concentration">Abnormal circulating proteinogenic amino acid concentration</a></span><ul><li><span class="TLline"><a href="/medgen/870891" ref="tree=MeSH" title="MedGen record for Abnormal circulating aromatic amino acid concentration">Abnormal circulating aromatic amino acid concentration</a></span><ul><li><span class="TLline"><a href="/medgen/1684690" ref="tree=MeSH" title="MedGen record for Abnormal circulating tyrosine concentration">Abnormal circulating tyrosine concentration</a></span><ul><li><span class="matched_ds">Hypertyrosinemia</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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||
|
||
<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>
|
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<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_78683"><div><strong>Tyrosinosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78683</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.">C0268484</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78683">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_75687"><div><strong>Tyrosinemia type II</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75687</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.">C0268487</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tyrosinemia type II is characterized by corneal dystrophy, painful palmoplantar hyperkeratosis, and variable intellectual disability. Individuals diagnosed and treated from early infancy may be asymptomatic or have only mild ocular and skin manifestations. Individuals with delayed diagnosis or lack of treatment present with ocular, skin, and variable cognitive manifestations.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75687">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_75688"><div><strong>Tyrosinemia type I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75688</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.">C0268490</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Untreated tyrosinemia type I usually presents either in young infants with severe liver involvement or later in the first year with liver dysfunction and renal tubular dysfunction associated with growth failure and rickets. Untreated children may have repeated, often unrecognized, neurologic crises lasting one to seven days that can include change in mental status, abdominal pain, peripheral neuropathy, and/or respiratory failure requiring mechanical ventilation. Death in the untreated child usually occurs before age ten years, typically from liver failure, neurologic crisis, or hepatocellular carcinoma. Combined treatment with nitisinone and a low-tyrosine diet has resulted in a greater than 90% survival rate, normal growth, improved liver function, prevention of cirrhosis, correction of renal tubular acidosis, and improvement in secondary rickets.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75688">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_78694"><div><strong>Tyrosinemia type III</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78694</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.">C0268623</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tyrosinemia type III (TYRSN3), an autosomal recessive disorder caused by a deficiency in the activity of 4-hydroxyphenylpyruvate dioxygenase (HPD), is characterized by elevated levels of blood tyrosine and massive excretion of its derivatives into urine. Patients with this disorder have mildly impaired intellectual development and/or convulsions, with the absence of liver damage (summary by Tomoeda et al., 2000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78694">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_338045"><div><strong>Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>338045</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.">C1850406</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MPV17-related mitochondrial DNA (mtDNA) maintenance defect presents in the vast majority of affected individuals as an early-onset encephalohepatopathic (hepatocerebral) disease that is typically associated with mtDNA depletion, particularly in the liver. A later-onset neuromyopathic disease characterized by myopathy and neuropathy, and associated with multiple mtDNA deletions in muscle, has also rarely been described. MPV17-related mtDNA maintenance defect, encephalohepatopathic form is characterized by: Hepatic manifestations (liver dysfunction that typically progresses to liver failure, cholestasis, hepatomegaly, and steatosis); Neurologic involvement (developmental delay, hypotonia, microcephaly, and motor and sensory peripheral neuropathy); Gastrointestinal manifestations (gastrointestinal dysmotility, feeding difficulties, and failure to thrive); and Metabolic derangements (lactic acidosis and hypoglycemia). Less frequent manifestations include renal tubulopathy, nephrocalcinosis, and hypoparathyroidism. Progressive liver disease often leads to death in infancy or early childhood. Hepatocellular carcinoma has been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/338045">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340091"><div><strong>Neonatal intrahepatic cholestasis due to citrin deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340091</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.">C1853942</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Citrin deficiency can manifest in newborns or infants as neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), in older children as failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD), and in adults as recurrent hyperammonemia with neuropsychiatric symptoms in citrullinemia type II (CTLN2). Often citrin deficiency is characterized by strong preference for protein-rich and/or lipid-rich foods and aversion to carbohydrate-rich foods. NICCD. Children younger than age one year have a history of low birth weight with growth restriction and transient intrahepatic cholestasis, hepatomegaly, diffuse fatty liver, and parenchymal cellular infiltration associated with hepatic fibrosis, variable liver dysfunction, hypoproteinemia, decreased coagulation factors, hemolytic anemia, and/or hypoglycemia. NICCD is generally not severe and symptoms often resolve by age one year with appropriate treatment, although liver transplantation has been required in rare instances. FTTDCD. Beyond age one year, many children with citrin deficiency develop a protein-rich and/or lipid-rich food preference and aversion to carbohydrate-rich foods. Clinical abnormalities may include growth restriction, hypoglycemia, pancreatitis, severe fatigue, anorexia, and impaired quality of life. Laboratory changes are dyslipidemia, increased lactate-to-pyruvate ratio, higher levels of urinary oxidative stress markers, and considerable deviation in tricarboxylic acid (TCA) cycle metabolites. One or more decades later, some individuals with NICCD or FTTDCD develop CTLN2. CTLN2. Presentation is sudden and usually between ages 20 and 50 years. Manifestations are recurrent hyperammonemia with neuropsychiatric symptoms including nocturnal delirium, aggression, irritability, hyperactivity, delusions, disorientation, restlessness, drowsiness, loss of memory, flapping tremor, convulsive seizures, and coma. Symptoms are often provoked by alcohol and sugar intake, medication, and/or surgery. Affected individuals may or may not have a prior history of NICCD or FTTDCD.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340091">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_419319"><div><strong>Hawkinsinuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>419319</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.">C2931042</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hawkinsinuria (HWKS) is an autosomal dominant inborn error of metabolism. Metabolic acidosis and tyrosinemia are transient, and symptoms improve within the first year of life. Patients continue to excrete the hawkinsin metabolite in their urine throughout life (Danks et al., 1975; Tomoeda et al., 2000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/419319">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_762097"><div><strong>Mitochondrial complex III deficiency nuclear type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>762097</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.">C3541471</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive mitochondrial complex III deficiency is a severe multisystem disorder with onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development. Visceral involvement, including hepatopathy and renal tubulopathy, may also occur. Many patients die in early childhood, but some may show longer survival (de Lonlay et al., 2001; De Meirleir et al., 2003). Genetic Heterogeneity of Mitochondrial Complex III Deficiency Mitochondrial complex III deficiency can be caused by mutation in several different nuclear-encoded genes. See MC3DN2 (615157), caused by mutation in the TTC19 gene (613814) on chromosome 17p12; MC3DN3 (615158), caused by mutation in the UQCRB gene (191330) on chromosome 8q; MC3DN4 (615159), caused by mutation in the UQCRQ gene (612080) on chromosome 5q31; MC3DN5 (615160), caused by mutation in the UQCRC2 gene (191329) on chromosome 16p12; MC3DN6 (615453), caused by mutation in the CYC1 gene (123980) on chromosome 8q24; MC3DN7 (615824), caused by mutation in the UQCC2 gene (614461) on chromosome 6p21; MC3DN8 (615838), caused by mutation in the LYRM7 gene (615831) on chromosome 5q23; MC3DN9 (616111), caused by mutation in the UQCC3 gene (616097) on chromosome 11q12; and MC3DN10 (618775), caused by mutation in the UQCRFS1 gene (191327) on chromosome 19q12. See also MTYCB (516020) for a discussion of a milder phenotype associated with isolated mitochondrial complex III deficiency and mutations in a mitochondrial-encoded gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/762097">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934657"><div><strong>Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934657</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.">C4310690</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the TFAM gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934657">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_419319" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hawkinsinuria</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_762097" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex III deficiency nuclear type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934657" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_338045" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340091" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neonatal intrahepatic cholestasis due to citrin deficiency</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (9)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75688" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tyrosinemia type I</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75687" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tyrosinemia type II</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78694" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tyrosinemia type III</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78683" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tyrosinosis</a></div></span></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/28755198">Remaining Challenges in the Treatment of Tyrosinemia from the Clinician's Viewpoint.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mitchell GA,
|
||
Yang H</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2017;959:205-213.
|
||
doi: 10.1007/978-3-319-55780-9_19.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28755198" target="_blank">28755198</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22069142">Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBC.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thimm E,
|
||
Richter-Werkle R,
|
||
Kamp G,
|
||
Molke B,
|
||
Herebian D,
|
||
Klee D,
|
||
Mayatepek E,
|
||
Spiekerkoetter U</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2012 Mar;35(2):263-8.
|
||
Epub 2011 Nov 9
|
||
doi: 10.1007/s10545-011-9394-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22069142" target="_blank">22069142</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11745044">The pathophysiology and treatment of hereditary tyrosinemia type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grompe M</span><br />
|
||
<span class="medgenPMjournal">Semin Liver Dis</span>
|
||
2001 Nov;21(4):563-71.
|
||
doi: 10.1055/s-2001-19035.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11745044" target="_blank">11745044</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hypertyrosinemia%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 (6)</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><h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/Tyrosine.pdf" target="_blank">American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Increased Tyrosine, Tyrosinemia, 2022</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/Tryosine-Elevated-Algorithm.pdf" target="_blank">American College of Medical Genetics and Genomics, Algorithm, Tyrosine Elevated, Succinylacetone Normal, 2022</a></h3>
|
||
</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/36966367">Nutritional interventions for patients with alkaptonuria: A minireview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Imrich R,
|
||
Zatkova A,
|
||
Lukacova O,
|
||
Sedlakova J,
|
||
Zanova E,
|
||
Vlcek M,
|
||
Penesova A,
|
||
Radikova Z,
|
||
Havranova A,
|
||
Ranganath L</span><br />
|
||
<span class="medgenPMjournal">Endocr Regul</span>
|
||
2023 Jan 1;57(1):61-67.
|
||
Epub 2023 Mar 26
|
||
doi: 10.2478/enr-2023-0008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36966367" target="_blank">36966367</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28755198">Remaining Challenges in the Treatment of Tyrosinemia from the Clinician's Viewpoint.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mitchell GA,
|
||
Yang H</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2017;959:205-213.
|
||
doi: 10.1007/978-3-319-55780-9_19.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28755198" target="_blank">28755198</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9343288">Tyrosinemia type III: diagnosis and ten-year follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cerone R,
|
||
Holme E,
|
||
Schiaffino MC,
|
||
Caruso U,
|
||
Maritano L,
|
||
Romano C</span><br />
|
||
<span class="medgenPMjournal">Acta Paediatr</span>
|
||
1997 Sep;86(9):1013-5.
|
||
doi: 10.1111/j.1651-2227.1997.tb15192.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9343288" target="_blank">9343288</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1356171">Hereditary tyrosinaemia type II in a consanguineous Ashkenazi Jewish family: intrafamilial variation in phenotype; absence of parental phenotype effects on the fetus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chitayat D,
|
||
Balbul A,
|
||
Hani V,
|
||
Mamer OA,
|
||
Clow C,
|
||
Scriver CR</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
1992;15(2):198-203.
|
||
doi: 10.1007/BF01799631.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1356171" target="_blank">1356171</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1181017">Neonatal hypertyrosinemia and evidence for deficiency of ascorbic acid in Arctic and subarctic peoples.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clow CL,
|
||
Laberge C,
|
||
Scriver CR</span><br />
|
||
<span class="medgenPMjournal">Can Med Assoc J</span>
|
||
1975 Oct 4;113(7):624-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1181017" target="_blank">1181017</a><a href="/pmc/articles/PMC1956727" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypertyrosinemia%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 (10)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37268334">Alkaptonuria - Past, present and future.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davison AS,
|
||
Norman BP</span><br />
|
||
<span class="medgenPMjournal">Adv Clin Chem</span>
|
||
2023;114:47-81.
|
||
Epub 2023 Mar 28
|
||
doi: 10.1016/bs.acc.2023.02.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37268334" target="_blank">37268334</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28755198">Remaining Challenges in the Treatment of Tyrosinemia from the Clinician's Viewpoint.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mitchell GA,
|
||
Yang H</span><br />
|
||
<span class="medgenPMjournal">Adv Exp Med Biol</span>
|
||
2017;959:205-213.
|
||
doi: 10.1007/978-3-319-55780-9_19.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28755198" target="_blank">28755198</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15689925">High protein diet mimics hypertyrosinemia in newborn infants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Techakittiroj C,
|
||
Cunningham A,
|
||
Hooper PF,
|
||
Andersson HC,
|
||
Thoene J</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2005 Feb;146(2):281-2.
|
||
doi: 10.1016/j.jpeds.2004.10.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15689925" target="_blank">15689925</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11370259">Tyrosinemia: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Russo PA,
|
||
Mitchell GA,
|
||
Tanguay RM</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dev Pathol</span>
|
||
2001 May-Jun;4(3):212-21.
|
||
doi: 10.1007/s100240010146.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11370259" target="_blank">11370259</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9343288">Tyrosinemia type III: diagnosis and ten-year follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cerone R,
|
||
Holme E,
|
||
Schiaffino MC,
|
||
Caruso U,
|
||
Maritano L,
|
||
Romano C</span><br />
|
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<span class="medgenPMjournal">Acta Paediatr</span>
|
||
1997 Sep;86(9):1013-5.
|
||
doi: 10.1111/j.1651-2227.1997.tb15192.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9343288" target="_blank">9343288</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypertyrosinemia%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 (21)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36966367">Nutritional interventions for patients with alkaptonuria: A minireview.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Imrich R,
|
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Zatkova A,
|
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Lukacova O,
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Sedlakova J,
|
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Zanova E,
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Vlcek M,
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Penesova A,
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Radikova Z,
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Havranova A,
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Ranganath L</span><br />
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<span class="medgenPMjournal">Endocr Regul</span>
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||
2023 Jan 1;57(1):61-67.
|
||
Epub 2023 Mar 26
|
||
doi: 10.2478/enr-2023-0008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36966367" target="_blank">36966367</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28755198">Remaining Challenges in the Treatment of Tyrosinemia from the Clinician's Viewpoint.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mitchell GA,
|
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Yang H</span><br />
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<span class="medgenPMjournal">Adv Exp Med Biol</span>
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||
2017;959:205-213.
|
||
doi: 10.1007/978-3-319-55780-9_19.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28755198" target="_blank">28755198</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23250512">Maternal and fetal tyrosinemia type I.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Garcia Segarra N,
|
||
Roche S,
|
||
Imbard A,
|
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Benoist JF,
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Grenèche MO,
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Davit-Spraul A,
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<span class="medgenPMjournal">J Inherit Metab Dis</span>
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2010 Dec;33 Suppl 3:S507-10.
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|
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<span class="bold">PMID: </span><a href="/pubmed/23250512" target="_blank">23250512</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15689925">High protein diet mimics hypertyrosinemia in newborn infants.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Techakittiroj C,
|
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Cunningham A,
|
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Hooper PF,
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Andersson HC,
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Thoene J</span><br />
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<span class="medgenPMjournal">J Pediatr</span>
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2005 Feb;146(2):281-2.
|
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doi: 10.1016/j.jpeds.2004.10.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15689925" target="_blank">15689925</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9343288">Tyrosinemia type III: diagnosis and ten-year follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cerone R,
|
||
Holme E,
|
||
Schiaffino MC,
|
||
Caruso U,
|
||
Maritano L,
|
||
Romano C</span><br />
|
||
<span class="medgenPMjournal">Acta Paediatr</span>
|
||
1997 Sep;86(9):1013-5.
|
||
doi: 10.1111/j.1651-2227.1997.tb15192.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9343288" target="_blank">9343288</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypertyrosinemia%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 (13)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36447403">An Infant with Bilateral Keratitis: From Infectious to Genetic Diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thibault LP,
|
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Mitchell GA,
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Parisien B,
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Hamel P,
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Blanchard AC</span><br />
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<span class="medgenPMjournal">Am J Case Rep</span>
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||
2022 Nov 30;23:e937967.
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||
doi: 10.12659/AJCR.937967.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36447403" target="_blank">36447403</a><a href="/pmc/articles/PMC9721097" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23954227">Novel and recurrent mutations in the TAT gene in Tunisian families affected with Richner-Hanhart syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bouyacoub Y,
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Zribi H,
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Azzouz H,
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Nasrallah F,
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Abdelaziz RB,
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Kacem M,
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Rekaya B,
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Messaoud O,
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Romdhane L,
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Charfeddine C,
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Bouziri M,
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Bouziri S,
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Tebib N,
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Mokni M,
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||
Kaabachi N,
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Boubaker S,
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<span class="medgenPMjournal">Gene</span>
|
||
2013 Oct 15;529(1):45-9.
|
||
Epub 2013 Aug 13
|
||
doi: 10.1016/j.gene.2013.07.066.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23954227" target="_blank">23954227</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11370259">Tyrosinemia: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Russo PA,
|
||
Mitchell GA,
|
||
Tanguay RM</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dev Pathol</span>
|
||
2001 May-Jun;4(3):212-21.
|
||
doi: 10.1007/s100240010146.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11370259" target="_blank">11370259</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9343288">Tyrosinemia type III: diagnosis and ten-year follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cerone R,
|
||
Holme E,
|
||
Schiaffino MC,
|
||
Caruso U,
|
||
Maritano L,
|
||
Romano C</span><br />
|
||
<span class="medgenPMjournal">Acta Paediatr</span>
|
||
1997 Sep;86(9):1013-5.
|
||
doi: 10.1111/j.1651-2227.1997.tb15192.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9343288" target="_blank">9343288</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypertyrosinemia%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 (4)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37268334">Alkaptonuria - Past, present and future.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davison AS,
|
||
Norman BP</span><br />
|
||
<span class="medgenPMjournal">Adv Clin Chem</span>
|
||
2023;114:47-81.
|
||
Epub 2023 Mar 28
|
||
doi: 10.1016/bs.acc.2023.02.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37268334" target="_blank">37268334</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23375473">Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Opladen T,
|
||
Hoffmann GF,
|
||
Kühn AA,
|
||
Blau N</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2013 Mar;108(3):195-7.
|
||
Epub 2013 Jan 12
|
||
doi: 10.1016/j.ymgme.2013.01.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23375473" target="_blank">23375473</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22069142">Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBC.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thimm E,
|
||
Richter-Werkle R,
|
||
Kamp G,
|
||
Molke B,
|
||
Herebian D,
|
||
Klee D,
|
||
Mayatepek E,
|
||
Spiekerkoetter U</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2012 Mar;35(2):263-8.
|
||
Epub 2011 Nov 9
|
||
doi: 10.1007/s10545-011-9394-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22069142" target="_blank">22069142</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11370259">Tyrosinemia: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Russo PA,
|
||
Mitchell GA,
|
||
Tanguay RM</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dev Pathol</span>
|
||
2001 May-Jun;4(3):212-21.
|
||
doi: 10.1007/s100240010146.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11370259" target="_blank">11370259</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7168483">Sural nerve lesions in a case of hypertyrosinemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Origuchi Y,
|
||
Endo F,
|
||
Kitano A,
|
||
Nagata N,
|
||
Matsuda I</span><br />
|
||
<span class="medgenPMjournal">Brain Dev</span>
|
||
1982;4(6):463-8.
|
||
doi: 10.1016/s0387-7604(82)80074-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7168483" target="_blank">7168483</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypertyrosinemia%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 (13)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
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|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
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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><li><a href="https://clinicaltrials.gov/search?cond=Hypertyrosinemia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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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=(%22hypertyrosinemia%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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Hypertyrosinemia%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. 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://www.acmg.net/PDFLibrary/Tyrosine.pdf">ACMG ACT, 2022</a><div>American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Increased Tyrosine, Tyrosinemia, 2022</div></li><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/Tryosine-Elevated-Algorithm.pdf">ACMG Algorithm, 2022</a><div>American College of Medical Genetics and Genomics, Algorithm, Tyrosine Elevated, Succinylacetone Normal, 2022</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Hypertyrosinemia" target="_blank">MedlinePlus</a></li></ul></div>
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<a href="/pubmed/clinical?term=Hypertyrosinemia" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<li>
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<a href="/pubmed?term=Hypertyrosinemia%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=742296" ref="log$=recordlinks">ClinVar</a>
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<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
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<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br />
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