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<!--
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UID=1733308
|
||
ConceptID=C5399765
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hyperargininemia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1733308</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.">C5399765</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>High blood arginine levels; Increased blood arginine concentration</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:0500153">HP:0500153</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 amount of arginine levels 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="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Hyperargininemia</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/1684808" ref="tree=MeSH" title="MedGen record for Abnormal circulating glutamine family amino acid concentration">Abnormal circulating glutamine family amino acid concentration</a></span><ul><li><span class="TLline"><a href="/medgen/869236" ref="tree=MeSH" title="MedGen record for Abnormal circulating arginine concentration">Abnormal circulating arginine concentration</a></span><ul><li><span class="matched_ds">Hyperargininemia</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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||
</div>
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||
<div class="portlet mgSection" id="ID_112">
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||
<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">
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||
<div class="divPopper rprt" id="rdis_78688"><div><strong>Arginase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78688</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:">C0268548</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Arginase deficiency in untreated individuals is characterized by episodic hyperammonemia of variable degree that is infrequently severe enough to be life threatening or to cause death. Most commonly, birth and early childhood are normal. Untreated individuals have slowing of linear growth at age one to three years, followed by development of spasticity, plateauing of cognitive development, and subsequent loss of developmental milestones. If untreated, arginase deficiency usually progresses to severe spasticity, loss of ambulation, complete loss of bowel and bladder control, and severe intellectual disability. Seizures are common and are usually controlled easily. Individuals treated from birth, either as a result of newborn screening or having an affected older sib, appear to have minimal symptoms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78688">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_350276"><div><strong>Citrullinemia type II</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>350276</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.">C1863844</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/350276">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78688" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arginase deficiency</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_350276" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Citrullinemia type II</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>
|
||
</div>
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||
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||
<div class="portlet mgSection" id="ID_105">
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<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/36049366">Epidemiology, methods of diagnosis, and clinical management of patients with arginase 1 deficiency (ARG1-D): A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bin Sawad A,
|
||
Jackimiec J,
|
||
Bechter M,
|
||
Trucillo A,
|
||
Lindsley K,
|
||
Bhagat A,
|
||
Uyei J,
|
||
Diaz GA</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2022 Sep-Oct;137(1-2):153-163.
|
||
Epub 2022 Aug 25
|
||
doi: 10.1016/j.ymgme.2022.08.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36049366" target="_blank">36049366</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28659245">Newborn screening for hyperargininemia due to arginase 1 deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Therrell BL,
|
||
Currier R,
|
||
Lapidus D,
|
||
Grimm M,
|
||
Cederbaum SD</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2017 Aug;121(4):308-313.
|
||
Epub 2017 Jun 20
|
||
doi: 10.1016/j.ymgme.2017.06.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28659245" target="_blank">28659245</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1690873">Guanidino compound analysis as a complementary diagnostic parameter for hyperargininemia: follow-up of guanidino compound levels during therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marescau B,
|
||
De Deyn PP,
|
||
Lowenthal A,
|
||
Qureshi IA,
|
||
Antonozzi I,
|
||
Bachmann C,
|
||
Cederbaum SD,
|
||
Cerone R,
|
||
Chamoles N,
|
||
Colombo JP</span><br />
|
||
<span class="medgenPMjournal">Pediatr Res</span>
|
||
1990 Mar;27(3):297-303.
|
||
doi: 10.1203/00006450-199003000-00020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1690873" target="_blank">1690873</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hyperargininemia%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 (3)</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/Arginine.pdf" target="_blank">American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, [Increased Arginine] Argininemia, 2022</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/Arginine-Algorithm.pdf" target="_blank">American College of Medical Genetics and Genomics, Arginine Elevated Algorithm, 2022</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/Arginase-Deficiency-Transition.pdf" target="_blank">American College of Medical Genetics and Genomics, Transition to Adult Health Care ACT Sheet, Arginase Deficiency (argininemia, hyperargininemia, ARG1 deficiency), Urea Cycle Disorder, 2012</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/30913345">Genetic mimics of cerebral palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pearson TS,
|
||
Pons R,
|
||
Ghaoui R,
|
||
Sue CM</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2019 May;34(5):625-636.
|
||
Epub 2019 Mar 26
|
||
doi: 10.1002/mds.27655.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30913345" target="_blank">30913345</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30355940">Coagulation Disturbances in Patients with Argininemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kiykim E,
|
||
Zubarioglu T,
|
||
Cansever MS,
|
||
Celkan T,
|
||
Häberle J,
|
||
Aktuglu Zeybek AC</span><br />
|
||
<span class="medgenPMjournal">Acta Haematol</span>
|
||
2018;140(4):221-225.
|
||
Epub 2018 Oct 24
|
||
doi: 10.1159/000493678.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30355940" target="_blank">30355940</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22964440">Arginase deficiency with new phenotype and a novel mutation: contemporary summary.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsang JP,
|
||
Poon WL,
|
||
Luk HM,
|
||
Fung CW,
|
||
Ching CK,
|
||
Mak CM,
|
||
Lam CW,
|
||
Siu TS,
|
||
Tam S,
|
||
Wong VC</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2012 Oct;47(4):263-9.
|
||
doi: 10.1016/j.pediatrneurol.2012.06.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22964440" target="_blank">22964440</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9378897">Argininemia: a treatable genetic cause of progressive spastic diplegia simulating cerebral palsy: case reports and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prasad AN,
|
||
Breen JC,
|
||
Ampola MG,
|
||
Rosman NP</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
1997 Aug;12(5):301-9.
|
||
doi: 10.1177/088307389701200502.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9378897" target="_blank">9378897</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6268159">Microinjection of arginase into enzyme-deficient cells with the isolated glycoproteins of Sendai virus as fusogen.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kruse CA,
|
||
Spector EB,
|
||
Cederbaum SD,
|
||
Wisnieski BJ,
|
||
Popják G</span><br />
|
||
<span class="medgenPMjournal">Biochim Biophys Acta</span>
|
||
1981 Jul 20;645(2):339-45.
|
||
doi: 10.1016/0005-2736(81)90205-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6268159" target="_blank">6268159</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperargininemia%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 (20)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30913345">Genetic mimics of cerebral palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pearson TS,
|
||
Pons R,
|
||
Ghaoui R,
|
||
Sue CM</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2019 May;34(5):625-636.
|
||
Epub 2019 Mar 26
|
||
doi: 10.1002/mds.27655.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30913345" target="_blank">30913345</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10771848">Arginase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Christopher R,
|
||
Rajivnath V,
|
||
Shetty KT</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
1997 Mar-Apr;64(2):266-9.
|
||
doi: 10.1007/BF02752462.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10771848" target="_blank">10771848</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6510017">Hyperammonemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Batshaw ML</span><br />
|
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<span class="medgenPMjournal">Curr Probl Pediatr</span>
|
||
1984 Nov;14(11):1-69.
|
||
doi: 10.1016/0045-9380(84)90047-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6510017" target="_blank">6510017</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/839368">Hyperargininemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cederbaum SD,
|
||
Shaw KN,
|
||
Valente M</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1977 Apr;90(4):569-73.
|
||
doi: 10.1016/s0022-3476(77)80368-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/839368" target="_blank">839368</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1124944">Familial hyperargininaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Terheggen HG,
|
||
Lowenthal A,
|
||
Lavinha F,
|
||
Colombo JP</span><br />
|
||
<span class="medgenPMjournal">Arch Dis Child</span>
|
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1975 Jan;50(1):57-62.
|
||
doi: 10.1136/adc.50.1.57.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1124944" target="_blank">1124944</a><a href="/pmc/articles/PMC1544492" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperargininemia%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 (72)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36049366">Epidemiology, methods of diagnosis, and clinical management of patients with arginase 1 deficiency (ARG1-D): A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bin Sawad A,
|
||
Jackimiec J,
|
||
Bechter M,
|
||
Trucillo A,
|
||
Lindsley K,
|
||
Bhagat A,
|
||
Uyei J,
|
||
Diaz GA</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2022 Sep-Oct;137(1-2):153-163.
|
||
Epub 2022 Aug 25
|
||
doi: 10.1016/j.ymgme.2022.08.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36049366" target="_blank">36049366</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29437538">Leveraging Rational Protein Engineering to Improve mRNA Therapeutics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Farelli JD,
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Asrani KH,
|
||
Isaacs C,
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||
deBear JS,
|
||
Stahley MR,
|
||
Shah A,
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||
Lasaro MA,
|
||
Cheng CJ,
|
||
Subramanian RR</span><br />
|
||
<span class="medgenPMjournal">Nucleic Acid Ther</span>
|
||
2018 Apr;28(2):74-85.
|
||
Epub 2018 Feb 13
|
||
doi: 10.1089/nat.2017.0697.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29437538" target="_blank">29437538</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21310339">Argininemia presenting with progressive spastic diplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee BH,
|
||
Jin HY,
|
||
Kim GH,
|
||
Choi JH,
|
||
Yoo HW</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2011 Mar;44(3):218-20.
|
||
doi: 10.1016/j.pediatrneurol.2010.11.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21310339" target="_blank">21310339</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9758714">Molecular basis of hyperargininemia: structure-function consequences of mutations in human liver arginase.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ash DE,
|
||
Scolnick LR,
|
||
Kanyo ZF,
|
||
Vockley JG,
|
||
Cederbaum SD,
|
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Christianson DW</span><br />
|
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<span class="medgenPMjournal">Mol Genet Metab</span>
|
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1998 Aug;64(4):243-9.
|
||
doi: 10.1006/mgme.1998.2677.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9758714" target="_blank">9758714</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/839367">Argininemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Snyderman SE,
|
||
Sansaricq C,
|
||
Chen WJ,
|
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Norton PM,
|
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Phansalkar SV</span><br />
|
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<span class="medgenPMjournal">J Pediatr</span>
|
||
1977 Apr;90(4):563-8.
|
||
doi: 10.1016/s0022-3476(77)80367-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/839367" target="_blank">839367</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperargininemia%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 (36)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30913345">Genetic mimics of cerebral palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pearson TS,
|
||
Pons R,
|
||
Ghaoui R,
|
||
Sue CM</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2019 May;34(5):625-636.
|
||
Epub 2019 Mar 26
|
||
doi: 10.1002/mds.27655.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30913345" target="_blank">30913345</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28089752">Three novel mutations of ARG1 identified in Chinese patients with argininemia detected by newborn screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang T,
|
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Yang J,
|
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Yin X,
|
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Yu P,
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Mooney R,
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Huang X,
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Qi M</span><br />
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<span class="medgenPMjournal">Clin Chim Acta</span>
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2017 Mar;466:68-71.
|
||
Epub 2017 Jan 12
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||
doi: 10.1016/j.cca.2017.01.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28089752" target="_blank">28089752</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18616627">Hereditary urea cycle diseases in Finland.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Keskinen P,
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Siitonen A,
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Salo M</span><br />
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<span class="medgenPMjournal">Acta Paediatr</span>
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2008 Oct;97(10):1412-9.
|
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Epub 2008 Jul 9
|
||
doi: 10.1111/j.1651-2227.2008.00923.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18616627" target="_blank">18616627</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15694174">Hyperargininemia due to liver arginase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Crombez EA,
|
||
Cederbaum SD</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2005 Mar;84(3):243-51.
|
||
Epub 2004 Dec 19
|
||
doi: 10.1016/j.ymgme.2004.11.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15694174" target="_blank">15694174</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9378897">Argininemia: a treatable genetic cause of progressive spastic diplegia simulating cerebral palsy: case reports and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prasad AN,
|
||
Breen JC,
|
||
Ampola MG,
|
||
Rosman NP</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
1997 Aug;12(5):301-9.
|
||
doi: 10.1177/088307389701200502.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9378897" target="_blank">9378897</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperargininemia%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 (25)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36722221">Arginase deficiency in Bulgaria: first cases and potential endemic region for the disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Atemin S,
|
||
Todorov T,
|
||
Tourtourikov I,
|
||
Ivanova MB,
|
||
Chamova T,
|
||
Avdjieva-Tzavella D,
|
||
Kathom H,
|
||
Georgieva B,
|
||
Guergueltcheva V,
|
||
Savov IBA,
|
||
Tournev I,
|
||
Mitev V,
|
||
Todorova A</span><br />
|
||
<span class="medgenPMjournal">J Genet</span>
|
||
2023;102
|
||
<span class="bold">PMID: </span><a href="/pubmed/36722221" target="_blank">36722221</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28089752">Three novel mutations of ARG1 identified in Chinese patients with argininemia detected by newborn screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang T,
|
||
Yang J,
|
||
Yin X,
|
||
Yu P,
|
||
Mooney R,
|
||
Huang X,
|
||
Qi M</span><br />
|
||
<span class="medgenPMjournal">Clin Chim Acta</span>
|
||
2017 Mar;466:68-71.
|
||
Epub 2017 Jan 12
|
||
doi: 10.1016/j.cca.2017.01.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28089752" target="_blank">28089752</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24258525">Epilepsia partialis continua and generalized nonconvulsive status epilepticus during the course of argininemia: a report on two cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grioni D,
|
||
Furlan F,
|
||
Canonico F,
|
||
Parini R</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
2014 Apr;45(2):123-8.
|
||
Epub 2013 Nov 20
|
||
doi: 10.1055/s-0033-1360479.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24258525" target="_blank">24258525</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22633632">Clinical features and neurologic progression of hyperargininemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carvalho DR,
|
||
Brum JM,
|
||
Speck-Martins CE,
|
||
Ventura FD,
|
||
Navarro MM,
|
||
Coelho KE,
|
||
Portugal D,
|
||
Pratesi R</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2012 Jun;46(6):369-74.
|
||
doi: 10.1016/j.pediatrneurol.2012.03.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22633632" target="_blank">22633632</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21310339">Argininemia presenting with progressive spastic diplegia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee BH,
|
||
Jin HY,
|
||
Kim GH,
|
||
Choi JH,
|
||
Yoo HW</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2011 Mar;44(3):218-20.
|
||
doi: 10.1016/j.pediatrneurol.2010.11.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21310339" target="_blank">21310339</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperargininemia%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 (28)</a></div></div>
|
||
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<div class="portlet_content ln">
|
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<div class="nl"><a target="_blank" href="/pubmed/36049366">Epidemiology, methods of diagnosis, and clinical management of patients with arginase 1 deficiency (ARG1-D): A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bin Sawad A,
|
||
Jackimiec J,
|
||
Bechter M,
|
||
Trucillo A,
|
||
Lindsley K,
|
||
Bhagat A,
|
||
Uyei J,
|
||
Diaz GA</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2022 Sep-Oct;137(1-2):153-163.
|
||
Epub 2022 Aug 25
|
||
doi: 10.1016/j.ymgme.2022.08.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36049366" target="_blank">36049366</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperargininemia%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
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