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<!--
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UID=892673
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ConceptID=C4025095
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hypoargininemia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892673</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.">C4025095</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>Arginine deficiency; Low blood arginine levels</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:0005961">HP:0005961</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">A decreased concentration of arginine 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">Hypoargininemia</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">Hypoargininemia</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_78687"><div><strong>Argininosuccinate lyase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78687</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:">C0268547</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Deficiency of argininosuccinate lyase (ASL), the enzyme that cleaves argininosuccinic acid to produce arginine and fumarate in the fourth step of the urea cycle, may present as a severe neonatal-onset form or a late-onset form: The severe neonatal-onset form is characterized by hyperammonemia within the first few days after birth that can manifest as increasing lethargy, somnolence, refusal to feed, vomiting, tachypnea, and respiratory alkalosis. Absence of treatment leads to worsening lethargy, seizures, coma, and even death. In contrast, the manifestations of late-onset form range from episodic hyperammonemia triggered by acute infection or stress to cognitive impairment, behavioral abnormalities, and/or learning disabilities in the absence of any documented episodes of hyperammonemia. Manifestations of ASL deficiency that appear to be unrelated to the severity or duration of hyperammonemic episodes: Neurocognitive deficiencies (attention-deficit/hyperactivity disorder, developmental delay, seizures, and learning disability). Liver disease (hepatitis, cirrhosis). Trichorrhexis nodosa (coarse brittle hair that breaks easily). Systemic hypertension.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78687">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816734"><div><strong>Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816734</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.">C3810404</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Most children with carbonic anhydrase VA (CA-VA) deficiency reported to date have presented between day 2 of life and early childhood (up to age 20 months) with hyperammonemic encephalopathy (i.e., lethargy, feeding intolerance, weight loss, tachypnea, seizures, and coma). Given that fewer than 20 affected individuals have been reported to date, the ranges of initial presentations and long-term prognoses are not completely understood. As of 2021 the oldest known affected individual is an adolescent. Almost all affected individuals reported to date have shown normal psychomotor development and no further episodes of metabolic crisis; however, a few have shown mild learning difficulties or delayed motor skills.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816734">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_907954"><div><strong>Congenital hyperammonemia, type I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>907954</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.">C4082171</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Carbamoyl phosphate synthetase I deficiency is an autosomal recessive inborn error of metabolism of the urea cycle which causes hyperammonemia. There are 2 main forms: a lethal neonatal type and a less severe, delayed-onset type (summary by Klaus et al., 2009). Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: ornithine transcarbamylase deficiency (311250), carbamyl phosphate synthetase deficiency, argininosuccinate synthetase deficiency, or citrullinemia (215700), argininosuccinate lyase deficiency (207900), and arginase deficiency (207800).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/907954">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648491"><div><strong>Citrullinemia type I</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648491</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.">C4721769</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Citrullinemia type I (CTLN1) presents as a spectrum that includes a neonatal acute form (the "classic" form), a milder late-onset form (the "non-classic" form), a form in which women have onset of symptoms at pregnancy or post partum, and a form without symptoms or hyperammonemia. Distinction between the forms is based primarily on clinical findings, although emerging evidence suggests that measurement of residual argininosuccinate synthase enzyme activity may help to predict those who are likely to have a severe phenotype and those who are likely to have an attenuated phenotype. Infants with the acute neonatal form appear normal at birth. Shortly thereafter, they develop hyperammonemia and become progressively lethargic, feed poorly, often vomit, and may develop signs of increased intracranial pressure (ICP). Without prompt intervention, hyperammonemia and the accumulation of other toxic metabolites (e.g., glutamine) result in increased ICP, increased neuromuscular tone, spasticity, ankle clonus, seizures, loss of consciousness, and death. Children with the severe form who are treated promptly may survive for an indeterminate period of time, but usually with significant neurologic deficits. Even with chronic protein restriction and scavenger therapy, long-term complications such as liver failure and other (rarely reported) organ system manifestations are possible. The late-onset form may be milder than that seen in the acute neonatal form, but commences later in life for reasons that are not completely understood. The episodes of hyperammonemia are similar to those seen in the acute neonatal form, but the initial neurologic findings may be more subtle because of the older age of the affected individuals. Women with onset of severe symptoms including acute hepatic decompensation during pregnancy or in the postpartum period have been reported. Furthermore, previously asymptomatic and non-pregnant individuals have been described who remained asymptomatic up to at least age ten years, with the possibility that they could remain asymptomatic lifelong.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648491">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1720006"><div><strong>ALDH18A1-related de Barsy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1720006</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.">C5234852</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">De Barsy syndrome, or autosomal recessive cutis laxa type III (ARCL3), is characterized by cutis laxa, a progeria-like appearance, and ophthalmologic abnormalities (summary by Kivuva et al., 2008). For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see 219100. Genetic Heterogeneity of de Barsy Syndrome Also see ARCL3B (614438), caused by mutation in the PYCR1 gene (179035) on chromosome 17q25.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1720006">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841116"><div><strong>Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841116</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.">C5830480</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial complex V deficiency nuclear type 4A (MC5DN4A) is an autosomal dominant metabolic disorder characterized by poor feeding and failure to thrive in early infancy. Laboratory studies show increased serum lactate, alanine, and ammonia, suggesting mitochondrial dysfunction. Some affected individuals show spontaneous resolution of these symptoms in early childhood and have subsequent normal growth and development, whereas others show developmental delay with impaired intellectual development and movement abnormalities, including dystonia, ataxia, or spasticity; these neurologic deficits are persistent (Lines et al., 2021, Zech et al., 2022). For a discussion of genetic heterogeneity of mitochondrial complex V deficiency, nuclear types, see MC5DN1 (604273).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841116">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1720006" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">ALDH18A1-related de Barsy syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78687" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Argininosuccinate lyase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648491" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Citrullinemia type I</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_907954" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital hyperammonemia, type I</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816734" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841116" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A</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/7441417">Treatment of hyperammonemic coma caused by inborn errors of urea synthesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Batshaw ML,
|
||
Brusilow SW</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1980 Dec;97(6):893-900.
|
||
doi: 10.1016/s0022-3476(80)80416-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7441417" target="_blank">7441417</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hypoargininemia%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 (1)</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/30849122">Citrulline protects mice from experimental cerebral malaria by ameliorating hypoargininemia, urea cycle changes and vascular leak.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gramaglia I,
|
||
Velez J,
|
||
Chang YS,
|
||
Caparros-Wanderley W,
|
||
Combes V,
|
||
Grau G,
|
||
Stins MF,
|
||
van der Heyde HC</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2019;14(3):e0213428.
|
||
Epub 2019 Mar 8
|
||
doi: 10.1371/journal.pone.0213428.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30849122" target="_blank">30849122</a><a href="/pmc/articles/PMC6407779" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28673038">Endothelial Nitric Oxide Pathways in the Pathophysiology of Dengue: A Prospective Observational Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yacoub S,
|
||
Lam PK,
|
||
Huynh TT,
|
||
Nguyen Ho HH,
|
||
Dong Thi HT,
|
||
Van NT,
|
||
Lien LT,
|
||
Ha QNT,
|
||
Le DHT,
|
||
Mongkolspaya J,
|
||
Culshaw A,
|
||
Yeo TW,
|
||
Wertheim H,
|
||
Simmons C,
|
||
Screaton G,
|
||
Wills B</span><br />
|
||
<span class="medgenPMjournal">Clin Infect Dis</span>
|
||
2017 Oct 16;65(9):1453-1461.
|
||
doi: 10.1093/cid/cix567.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28673038" target="_blank">28673038</a><a href="/pmc/articles/PMC5850435" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27385484">Monocyte polarization in children with falciparum malaria: relationship to nitric oxide insufficiency and disease severity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weinberg JB,
|
||
Volkheimer AD,
|
||
Rubach MP,
|
||
Florence SM,
|
||
Mukemba JP,
|
||
Kalingonji AR,
|
||
Langelier C,
|
||
Chen Y,
|
||
Bush M,
|
||
Yeo TW,
|
||
Granger DL,
|
||
Anstey NM,
|
||
Mwaikambo ED</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2016 Jul 7;6:29151.
|
||
doi: 10.1038/srep29151.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27385484" target="_blank">27385484</a><a href="/pmc/articles/PMC4935839" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23922746">A randomized pilot study of L-arginine infusion in severe falciparum malaria: preliminary safety, efficacy and pharmacokinetics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yeo TW,
|
||
Lampah DA,
|
||
Rooslamiati I,
|
||
Gitawati R,
|
||
Tjitra E,
|
||
Kenangalem E,
|
||
Price RN,
|
||
Duffull SB,
|
||
Anstey NM</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2013;8(7):e69587.
|
||
Epub 2013 Jul 29
|
||
doi: 10.1371/journal.pone.0069587.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23922746" target="_blank">23922746</a><a href="/pmc/articles/PMC3726665" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23329787">Enteral L-arginine supplementation for prevention of necrotizing enterocolitis in very low birth weight neonates: a double-blind randomized pilot study of efficacy and safety.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Polycarpou E,
|
||
Zachaki S,
|
||
Tsolia M,
|
||
Papaevangelou V,
|
||
Polycarpou N,
|
||
Briana DD,
|
||
Gavrili S,
|
||
Kostalos C,
|
||
Kafetzis D</span><br />
|
||
<span class="medgenPMjournal">JPEN J Parenter Enteral Nutr</span>
|
||
2013 Sep;37(5):617-22.
|
||
Epub 2013 Jan 17
|
||
doi: 10.1177/0148607112471561.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23329787" target="_blank">23329787</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoargininemia%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 (5)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/23329787">Enteral L-arginine supplementation for prevention of necrotizing enterocolitis in very low birth weight neonates: a double-blind randomized pilot study of efficacy and safety.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Polycarpou E,
|
||
Zachaki S,
|
||
Tsolia M,
|
||
Papaevangelou V,
|
||
Polycarpou N,
|
||
Briana DD,
|
||
Gavrili S,
|
||
Kostalos C,
|
||
Kafetzis D</span><br />
|
||
<span class="medgenPMjournal">JPEN J Parenter Enteral Nutr</span>
|
||
2013 Sep;37(5):617-22.
|
||
Epub 2013 Jan 17
|
||
doi: 10.1177/0148607112471561.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23329787" target="_blank">23329787</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11092761">Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baumgartner MR,
|
||
Hu CA,
|
||
Almashanu S,
|
||
Steel G,
|
||
Obie C,
|
||
Aral B,
|
||
Rabier D,
|
||
Kamoun P,
|
||
Saudubray JM,
|
||
Valle D</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2000 Nov 22;9(19):2853-8.
|
||
doi: 10.1093/hmg/9.19.2853.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11092761" target="_blank">11092761</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoargininemia%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 (2)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30849122">Citrulline protects mice from experimental cerebral malaria by ameliorating hypoargininemia, urea cycle changes and vascular leak.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gramaglia I,
|
||
Velez J,
|
||
Chang YS,
|
||
Caparros-Wanderley W,
|
||
Combes V,
|
||
Grau G,
|
||
Stins MF,
|
||
van der Heyde HC</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2019;14(3):e0213428.
|
||
Epub 2019 Mar 8
|
||
doi: 10.1371/journal.pone.0213428.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30849122" target="_blank">30849122</a><a href="/pmc/articles/PMC6407779" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23922746">A randomized pilot study of L-arginine infusion in severe falciparum malaria: preliminary safety, efficacy and pharmacokinetics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yeo TW,
|
||
Lampah DA,
|
||
Rooslamiati I,
|
||
Gitawati R,
|
||
Tjitra E,
|
||
Kenangalem E,
|
||
Price RN,
|
||
Duffull SB,
|
||
Anstey NM</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2013;8(7):e69587.
|
||
Epub 2013 Jul 29
|
||
doi: 10.1371/journal.pone.0069587.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23922746" target="_blank">23922746</a><a href="/pmc/articles/PMC3726665" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15302078">Arginine deficiency in preterm infants: biochemical mechanisms and nutritional implications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu G,
|
||
Jaeger LA,
|
||
Bazer FW,
|
||
Rhoads JM</span><br />
|
||
<span class="medgenPMjournal">J Nutr Biochem</span>
|
||
2004 Aug;15(8):442-51.
|
||
doi: 10.1016/j.jnutbio.2003.11.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15302078" target="_blank">15302078</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6511918">Arginine, an indispensable amino acid for patients with inborn errors of urea synthesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brusilow SW</span><br />
|
||
<span class="medgenPMjournal">J Clin Invest</span>
|
||
1984 Dec;74(6):2144-8.
|
||
doi: 10.1172/JCI111640.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6511918" target="_blank">6511918</a><a href="/pmc/articles/PMC425406" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7441417">Treatment of hyperammonemic coma caused by inborn errors of urea synthesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Batshaw ML,
|
||
Brusilow SW</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1980 Dec;97(6):893-900.
|
||
doi: 10.1016/s0022-3476(80)80416-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7441417" target="_blank">7441417</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoargininemia%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 (6)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/23922746">A randomized pilot study of L-arginine infusion in severe falciparum malaria: preliminary safety, efficacy and pharmacokinetics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yeo TW,
|
||
Lampah DA,
|
||
Rooslamiati I,
|
||
Gitawati R,
|
||
Tjitra E,
|
||
Kenangalem E,
|
||
Price RN,
|
||
Duffull SB,
|
||
Anstey NM</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2013;8(7):e69587.
|
||
Epub 2013 Jul 29
|
||
doi: 10.1371/journal.pone.0069587.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23922746" target="_blank">23922746</a><a href="/pmc/articles/PMC3726665" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18605903">Recovery of endothelial function in severe falciparum malaria: relationship with improvement in plasma L-arginine and blood lactate concentrations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yeo TW,
|
||
Lampah DA,
|
||
Gitawati R,
|
||
Tjitra E,
|
||
Kenangalem E,
|
||
McNeil YR,
|
||
Darcy CJ,
|
||
Granger DL,
|
||
Weinberg JB,
|
||
Lopansri BK,
|
||
Price RN,
|
||
Duffull SB,
|
||
Celermajer DS,
|
||
Anstey NM</span><br />
|
||
<span class="medgenPMjournal">J Infect Dis</span>
|
||
2008 Aug 15;198(4):602-8.
|
||
doi: 10.1086/590209.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18605903" target="_blank">18605903</a><a href="/pmc/articles/PMC2709993" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoargininemia%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 (2)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30849122">Citrulline protects mice from experimental cerebral malaria by ameliorating hypoargininemia, urea cycle changes and vascular leak.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gramaglia I,
|
||
Velez J,
|
||
Chang YS,
|
||
Caparros-Wanderley W,
|
||
Combes V,
|
||
Grau G,
|
||
Stins MF,
|
||
van der Heyde HC</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2019;14(3):e0213428.
|
||
Epub 2019 Mar 8
|
||
doi: 10.1371/journal.pone.0213428.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30849122" target="_blank">30849122</a><a href="/pmc/articles/PMC6407779" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28673038">Endothelial Nitric Oxide Pathways in the Pathophysiology of Dengue: A Prospective Observational Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yacoub S,
|
||
Lam PK,
|
||
Huynh TT,
|
||
Nguyen Ho HH,
|
||
Dong Thi HT,
|
||
Van NT,
|
||
Lien LT,
|
||
Ha QNT,
|
||
Le DHT,
|
||
Mongkolspaya J,
|
||
Culshaw A,
|
||
Yeo TW,
|
||
Wertheim H,
|
||
Simmons C,
|
||
Screaton G,
|
||
Wills B</span><br />
|
||
<span class="medgenPMjournal">Clin Infect Dis</span>
|
||
2017 Oct 16;65(9):1453-1461.
|
||
doi: 10.1093/cid/cix567.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28673038" target="_blank">28673038</a><a href="/pmc/articles/PMC5850435" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24166672">Increased plasma arginase activity in human sepsis: association with increased circulating neutrophils.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Darcy CJ,
|
||
Woodberry T,
|
||
Davis JS,
|
||
Piera KA,
|
||
McNeil YR,
|
||
Chen Y,
|
||
Yeo TW,
|
||
Weinberg JB,
|
||
Anstey NM</span><br />
|
||
<span class="medgenPMjournal">Clin Chem Lab Med</span>
|
||
2014 Apr;52(4):573-81.
|
||
doi: 10.1515/cclm-2013-0698.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24166672" target="_blank">24166672</a><a href="/pmc/articles/PMC4431981" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23922746">A randomized pilot study of L-arginine infusion in severe falciparum malaria: preliminary safety, efficacy and pharmacokinetics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yeo TW,
|
||
Lampah DA,
|
||
Rooslamiati I,
|
||
Gitawati R,
|
||
Tjitra E,
|
||
Kenangalem E,
|
||
Price RN,
|
||
Duffull SB,
|
||
Anstey NM</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2013;8(7):e69587.
|
||
Epub 2013 Jul 29
|
||
doi: 10.1371/journal.pone.0069587.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23922746" target="_blank">23922746</a><a href="/pmc/articles/PMC3726665" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23329787">Enteral L-arginine supplementation for prevention of necrotizing enterocolitis in very low birth weight neonates: a double-blind randomized pilot study of efficacy and safety.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Polycarpou E,
|
||
Zachaki S,
|
||
Tsolia M,
|
||
Papaevangelou V,
|
||
Polycarpou N,
|
||
Briana DD,
|
||
Gavrili S,
|
||
Kostalos C,
|
||
Kafetzis D</span><br />
|
||
<span class="medgenPMjournal">JPEN J Parenter Enteral Nutr</span>
|
||
2013 Sep;37(5):617-22.
|
||
Epub 2013 Jan 17
|
||
doi: 10.1177/0148607112471561.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23329787" target="_blank">23329787</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypoargininemia%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 (6)</a></div></div>
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