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<!--
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UID=326901
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ConceptID=C1839533
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hyperglutaminemia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>326901</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.">C1839533</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>High plasma glutamine</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:0003217">HP:0003217</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 glutamine 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">Hyperglutaminemia</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/1684752" ref="tree=MeSH" title="MedGen record for Abnormal circulating glutamine concentration">Abnormal circulating glutamine concentration</a></span><ul><li><span class="matched_ds">Hyperglutaminemia</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_75692"><div><strong>Ornithine carbamoyltransferase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75692</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.">C0268542</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ornithine transcarbamylase (OTC) deficiency can occur as a severe neonatal-onset disease in males (but rarely in females) and as a post-neonatal-onset (also known as "late-onset" or partial deficiency) disease in males and females. Males with severe neonatal-onset OTC deficiency are asymptomatic at birth but become symptomatic from hyperammonemia in the first week of life, most often on day two to three of life, and are usually catastrophically ill by the time they come to medical attention. After successful treatment of neonatal hyperammonemic coma these infants can easily become hyperammonemic again despite appropriate treatment; they typically require liver transplant to improve quality of life. Males and heterozygous females with post-neonatal-onset (partial) OTC deficiency can present from infancy to later childhood, adolescence, or adulthood. No matter how mild the disease, a hyperammonemic crisis can be precipitated by stressors and become a life-threatening event at any age and in any situation in life. For all individuals with OTC deficiency, typical neuropsychological complications include developmental delay, learning disabilities, intellectual disability, attention-deficit/hyperactivity disorder, and executive function deficits.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75692">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120649"><div><strong>Hyperammonemia, type III</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120649</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.">C0268543</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">N-acetylglutamate synthase deficiency (NAGSD) is an autosomal recessive disorder of the urea cycle. The clinical and biochemical features of the disorder are indistinguishable from carbamoyl phosphate synthase I deficiency (237300), since the CPS1 enzyme (608307) has an absolute requirement for NAGS (Caldovic et al., 2007).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120649">Condition Record</a></div></div>
|
||
<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_904073"><div><strong>Lipoyl transferase 1 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>904073</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.">C4225379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lipoyl transferase 1 deficiency is a very rare inborn error of metabolism disorder, with a highly variable phenotype, typically characterized by neonatal to infancy-onset of seizures, psychomotor delay, and abnormal muscle tone that may include hypo- and/or hypertonia, resulting in generalized weakness, dystonic movements, and/or progressive respiratory distress, associated with severe lactic acidosis and elevated lactate, ketoglutarate and 2-oxoacids in urine. Additional manifestations may include dehydration, vomiting, signs of liver dysfunction, extrapyramidal signs, spastic tetraparesis, brisk deep tendon reflexes, speech impairment, swallowing difficulties, and pulmonary hypertension.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/904073">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_1680160"><div><strong>Global developmental delay, progressive ataxia, and elevated glutamine</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1680160</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.">C5193080</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Patients with global developmental delay, progressive ataxia, and elevated glutamine (GDPAG) present in early childhood with delay of both gross and fine motor skills and delayed speech. Ataxia develops by mid- to late childhood, necessitating use of a walker or wheelchair. Plasma glutamine is persistently elevated by a factor of 2.5 despite normal plasma ammonia levels. Residual glutaminase (GLS) activity can be detected in fibroblasts and lymphocytes. One or both alleles of the GLS gene carry an expanded GCA trinucleotide repeat in the 5-prime untranslated region (UTR); the repeat expansion may be found in compound heterozygosity with another GLS mutation. Three patients have been reported (summary by van Kuilenburg et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1680160">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1786100"><div><strong>Mitochondrial complex IV deficiency, nuclear type 22</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1786100</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.">C5543491</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial complex IV deficiency nuclear type 22 (MC4DN22) is an autosomal recessive metabolic disorder characterized by neonatal hypertrophic cardiomyopathy, encephalopathy, and severe lactic acidosis with fatal outcome (Wintjes et al., 2021). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1786100">Condition Record</a></div></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_1680160" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay, progressive ataxia, and elevated glutamine</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120649" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperammonemia, type III</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_904073" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lipoyl transferase 1 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1786100" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex IV deficiency, nuclear type 22</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75692" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ornithine carbamoyltransferase deficiency</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/34233720">Plasma glutamine status at intensive care unit admission: an independent risk factor for mortality in critical illness.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smedberg M,
|
||
Helleberg J,
|
||
Norberg Å,
|
||
Tjäder I,
|
||
Rooyackers O,
|
||
Wernerman J</span><br />
|
||
<span class="medgenPMjournal">Crit Care</span>
|
||
2021 Jul 7;25(1):240.
|
||
doi: 10.1186/s13054-021-03640-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34233720" target="_blank">34233720</a><a href="/pmc/articles/PMC8265095" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16602094">Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scaglia F,
|
||
Lee B</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2006 May 15;142C(2):113-20.
|
||
doi: 10.1002/ajmg.c.30091.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16602094" target="_blank">16602094</a><a href="/pmc/articles/PMC4052756" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15050979">Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scaglia F,
|
||
Carter S,
|
||
O'Brien WE,
|
||
Lee B</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2004 Apr;81 Suppl 1:S79-85.
|
||
doi: 10.1016/j.ymgme.2003.11.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15050979" target="_blank">15050979</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12812952">Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takanashi J,
|
||
Barkovich AJ,
|
||
Cheng SF,
|
||
Weisiger K,
|
||
Zlatunich CO,
|
||
Mudge C,
|
||
Rosenthal P,
|
||
Tuchman M,
|
||
Packman S</span><br />
|
||
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
|
||
2003 Jun-Jul;24(6):1184-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12812952" target="_blank">12812952</a><a href="/pmc/articles/PMC8148992" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8778603">Long-term treatment of girls with ornithine transcarbamylase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maestri NE,
|
||
Brusilow SW,
|
||
Clissold DB,
|
||
Bassett SS</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
1996 Sep 19;335(12):855-9.
|
||
doi: 10.1056/NEJM199609193351204.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8778603" target="_blank">8778603</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperglutaminemia%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 (7)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34233720">Plasma glutamine status at intensive care unit admission: an independent risk factor for mortality in critical illness.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smedberg M,
|
||
Helleberg J,
|
||
Norberg Å,
|
||
Tjäder I,
|
||
Rooyackers O,
|
||
Wernerman J</span><br />
|
||
<span class="medgenPMjournal">Crit Care</span>
|
||
2021 Jul 7;25(1):240.
|
||
doi: 10.1186/s13054-021-03640-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34233720" target="_blank">34233720</a><a href="/pmc/articles/PMC8265095" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26440671">Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ali EZ,
|
||
Khalid MK,
|
||
Yunus ZM,
|
||
Yakob Y,
|
||
Chin CB,
|
||
Abd Latif K,
|
||
Hock NL</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2016 Mar;175(3):339-46.
|
||
Epub 2015 Oct 6
|
||
doi: 10.1007/s00431-015-2644-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26440671" target="_blank">26440671</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16602094">Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scaglia F,
|
||
Lee B</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2006 May 15;142C(2):113-20.
|
||
doi: 10.1002/ajmg.c.30091.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16602094" target="_blank">16602094</a><a href="/pmc/articles/PMC4052756" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12812952">Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takanashi J,
|
||
Barkovich AJ,
|
||
Cheng SF,
|
||
Weisiger K,
|
||
Zlatunich CO,
|
||
Mudge C,
|
||
Rosenthal P,
|
||
Tuchman M,
|
||
Packman S</span><br />
|
||
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
|
||
2003 Jun-Jul;24(6):1184-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12812952" target="_blank">12812952</a><a href="/pmc/articles/PMC8148992" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2246687">Late-onset ornithine transcarbamylase deficiency in male patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Finkelstein JE,
|
||
Hauser ER,
|
||
Leonard CO,
|
||
Brusilow SW</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
1990 Dec;117(6):897-902.
|
||
doi: 10.1016/s0022-3476(05)80129-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2246687" target="_blank">2246687</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperglutaminemia%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 (9)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27829456">Is the glutamine story over?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smedberg M,
|
||
Wernerman J</span><br />
|
||
<span class="medgenPMjournal">Crit Care</span>
|
||
2016 Nov 10;20(1):361.
|
||
doi: 10.1186/s13054-016-1531-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27829456" target="_blank">27829456</a><a href="/pmc/articles/PMC5103504" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26035146">Further Concerns About Glutamine: A Case Report on Hyperammonemic Encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cioccari L,
|
||
Gautschi M,
|
||
Etter R,
|
||
Weck A,
|
||
Takala J</span><br />
|
||
<span class="medgenPMjournal">Crit Care Med</span>
|
||
2015 Oct;43(10):e458-60.
|
||
doi: 10.1097/CCM.0000000000001151.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26035146" target="_blank">26035146</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15050979">Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scaglia F,
|
||
Carter S,
|
||
O'Brien WE,
|
||
Lee B</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2004 Apr;81 Suppl 1:S79-85.
|
||
doi: 10.1016/j.ymgme.2003.11.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15050979" target="_blank">15050979</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8778603">Long-term treatment of girls with ornithine transcarbamylase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maestri NE,
|
||
Brusilow SW,
|
||
Clissold DB,
|
||
Bassett SS</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
1996 Sep 19;335(12):855-9.
|
||
doi: 10.1056/NEJM199609193351204.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8778603" target="_blank">8778603</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><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperglutaminemia%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/34233720">Plasma glutamine status at intensive care unit admission: an independent risk factor for mortality in critical illness.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smedberg M,
|
||
Helleberg J,
|
||
Norberg Å,
|
||
Tjäder I,
|
||
Rooyackers O,
|
||
Wernerman J</span><br />
|
||
<span class="medgenPMjournal">Crit Care</span>
|
||
2021 Jul 7;25(1):240.
|
||
doi: 10.1186/s13054-021-03640-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34233720" target="_blank">34233720</a><a href="/pmc/articles/PMC8265095" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33183541">Endogenous production of glutamine and plasma glutamine concentration in critically ill patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smedberg M,
|
||
Rooyackers O,
|
||
Norberg Å,
|
||
Tjäder I,
|
||
Wernerman J</span><br />
|
||
<span class="medgenPMjournal">Clin Nutr ESPEN</span>
|
||
2020 Dec;40:226-230.
|
||
Epub 2020 Oct 7
|
||
doi: 10.1016/j.clnesp.2020.09.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33183541" target="_blank">33183541</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16602094">Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scaglia F,
|
||
Lee B</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2006 May 15;142C(2):113-20.
|
||
doi: 10.1002/ajmg.c.30091.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16602094" target="_blank">16602094</a><a href="/pmc/articles/PMC4052756" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15050979">Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Scaglia F,
|
||
Carter S,
|
||
O'Brien WE,
|
||
Lee B</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2004 Apr;81 Suppl 1:S79-85.
|
||
doi: 10.1016/j.ymgme.2003.11.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15050979" target="_blank">15050979</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12812952">Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takanashi J,
|
||
Barkovich AJ,
|
||
Cheng SF,
|
||
Weisiger K,
|
||
Zlatunich CO,
|
||
Mudge C,
|
||
Rosenthal P,
|
||
Tuchman M,
|
||
Packman S</span><br />
|
||
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
|
||
2003 Jun-Jul;24(6):1184-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12812952" target="_blank">12812952</a><a href="/pmc/articles/PMC8148992" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperglutaminemia%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 (7)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35711415">Immune Alterations in a Patient With Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome: A Case Report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Silvera-Ruiz SM,
|
||
Gemperle C,
|
||
Peano N,
|
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Olivero V,
|
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Becerra A,
|
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Häberle J,
|
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Gruppi A,
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Larovere LE,
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Motrich RD</span><br />
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<span class="medgenPMjournal">Front Immunol</span>
|
||
2022;13:861516.
|
||
Epub 2022 May 27
|
||
doi: 10.3389/fimmu.2022.861516.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35711415" target="_blank">35711415</a><a href="/pmc/articles/PMC9196877" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/34233720">Plasma glutamine status at intensive care unit admission: an independent risk factor for mortality in critical illness.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smedberg M,
|
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Helleberg J,
|
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Norberg Å,
|
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Tjäder I,
|
||
Rooyackers O,
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Wernerman J</span><br />
|
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<span class="medgenPMjournal">Crit Care</span>
|
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2021 Jul 7;25(1):240.
|
||
doi: 10.1186/s13054-021-03640-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34233720" target="_blank">34233720</a><a href="/pmc/articles/PMC8265095" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
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<div class="nl"><a target="_blank" href="/pubmed/33183541">Endogenous production of glutamine and plasma glutamine concentration in critically ill patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Smedberg M,
|
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Rooyackers O,
|
||
Norberg Å,
|
||
Tjäder I,
|
||
Wernerman J</span><br />
|
||
<span class="medgenPMjournal">Clin Nutr ESPEN</span>
|
||
2020 Dec;40:226-230.
|
||
Epub 2020 Oct 7
|
||
doi: 10.1016/j.clnesp.2020.09.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33183541" target="_blank">33183541</a></div>
|
||
|
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<div class="nl"><a target="_blank" href="/pubmed/26440671">Carbamoylphosphate synthetase 1 (CPS1) deficiency: clinical, biochemical, and molecular characterization in Malaysian patients.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Ali EZ,
|
||
Khalid MK,
|
||
Yunus ZM,
|
||
Yakob Y,
|
||
Chin CB,
|
||
Abd Latif K,
|
||
Hock NL</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2016 Mar;175(3):339-46.
|
||
Epub 2015 Oct 6
|
||
doi: 10.1007/s00431-015-2644-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26440671" target="_blank">26440671</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Scaglia F,
|
||
Carter S,
|
||
O'Brien WE,
|
||
Lee B</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2004 Apr;81 Suppl 1:S79-85.
|
||
doi: 10.1016/j.ymgme.2003.11.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15050979" target="_blank">15050979</a></div>
|
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