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<!--
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||
UID=831252
|
||
ConceptID=CN201794
|
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-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Adult-onset citrullinemia type I</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>831252</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN201794</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>Adult-onset citrullinemia type 1; adult-onset citrullinemia type 1; adult-onset citrullinemia type I; Late-onset citrullinemia type 1; late-onset citrullinemia type 1; Late-onset citrullinemia type I; late-onset citrullinemia type I</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0016601" target="_blank">MONDO:0016601</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=247573">ORPHA247573</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
|
||
<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>
|
||
<div class="portlet_content ln">A form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur. [from <a title="Orphanet Rare Disease Ontology (ORDO)" href="http://www.orphadata.org/cgi-bin/inc/ordo_orphanet.inc.php" class="defSource" target="_blank">ORDO</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</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">Adult-onset citrullinemia type I</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/181981" ref="tree=MeSH" title="MedGen record for Inborn genetic diseases">Inborn genetic diseases</a></span><ul><li><span class="TLline"><a href="/medgen/6323" ref="tree=MeSH" title="MedGen record for Inborn errors of metabolism">Inborn errors of metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/156005" ref="tree=MeSH" title="MedGen record for Brain Diseases, Metabolic, Inborn">Brain Diseases, Metabolic, Inborn</a></span><ul><li><span class="TLline"><a href="/medgen/57586" ref="tree=MeSH" title="MedGen record for Disorder of the urea cycle metabolism">Disorder of the urea cycle metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/104491" ref="tree=MeSH" title="MedGen record for Citrullinemia">Citrullinemia</a></span><ul><li><span class="TLline"><a href="/medgen/1648491" ref="tree=MeSH" title="MedGen record for Citrullinemia type I">Citrullinemia type I</a></span><ul><li><span class="matched_ds">Adult-onset citrullinemia type I</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=19526&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Adult-onset citrullinemia type I</span> in Orphanet.</div></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/37952953">Pathogenesis and Management of Citrin Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hayasaka K</span><br />
|
||
<span class="medgenPMjournal">Intern Med</span>
|
||
2024 Jul 15;63(14):1977-1986.
|
||
Epub 2023 Nov 13
|
||
doi: 10.2169/internalmedicine.2595-23.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37952953" target="_blank">37952953</a><a href="/pmc/articles/PMC11309867" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32740958">Metabolic basis and treatment of citrin deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hayasaka K</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2021 Jan;44(1):110-117.
|
||
Epub 2020 Aug 26
|
||
doi: 10.1002/jimd.12294.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32740958" target="_blank">32740958</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32720136">Lessons for the clinical nephrologist: dietary management of adult-onset type II citrullinemia in chronic kidney disease: a nutritional dilemma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weng HL,
|
||
Yang FJ,
|
||
Chien YH,
|
||
Chen PR,
|
||
Lin ZX,
|
||
Lee NC,
|
||
Hwu WL</span><br />
|
||
<span class="medgenPMjournal">J Nephrol</span>
|
||
2020 Oct;33(5):1111-1113.
|
||
Epub 2020 Jul 27
|
||
doi: 10.1007/s40620-020-00813-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32720136" target="_blank">32720136</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(adult-onset%20citrullinemia%20type%20i)%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 (14)</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/39021261">The therapeutic landscape of citrin deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vuković T,
|
||
Kuek LE,
|
||
Yu B,
|
||
Makris G,
|
||
Häberle J</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2024 Nov;47(6):1157-1174.
|
||
Epub 2024 Jul 17
|
||
doi: 10.1002/jimd.12768.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39021261" target="_blank">39021261</a><a href="/pmc/articles/PMC11586593" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37242166">Citrin Deficiency: Clinical and Nutritional Features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Komatsu M,
|
||
Tanaka N,
|
||
Kimura T,
|
||
Yazaki M</span><br />
|
||
<span class="medgenPMjournal">Nutrients</span>
|
||
2023 May 12;15(10)
|
||
doi: 10.3390/nu15102284.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37242166" target="_blank">37242166</a><a href="/pmc/articles/PMC10224054" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34579000">Food Preferences of Patients with Citrin Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Okamoto M,
|
||
Okano Y,
|
||
Okano M,
|
||
Yazaki M,
|
||
Inui A,
|
||
Ohura T,
|
||
Murayama K,
|
||
Watanabe Y,
|
||
Tokuhara D,
|
||
Takeshima Y</span><br />
|
||
<span class="medgenPMjournal">Nutrients</span>
|
||
2021 Sep 6;13(9)
|
||
doi: 10.3390/nu13093123.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34579000" target="_blank">34579000</a><a href="/pmc/articles/PMC8468903" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27829683">Biochemical and molecular characteristics of citrin deficiency in Korean children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oh SH,
|
||
Lee BH,
|
||
Kim GH,
|
||
Choi JH,
|
||
Kim KM,
|
||
Yoo HW</span><br />
|
||
<span class="medgenPMjournal">J Hum Genet</span>
|
||
2017 Feb;62(2):305-307.
|
||
Epub 2016 Nov 10
|
||
doi: 10.1038/jhg.2016.131.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27829683" target="_blank">27829683</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20118603">Conventional diet therapy for hyperammonemia is risky in the treatment of hepatic encephalopathy associated with citrin deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fukushima K,
|
||
Yazaki M,
|
||
Nakamura M,
|
||
Tanaka N,
|
||
Kobayashi K,
|
||
Saheki T,
|
||
Takei H,
|
||
Ikeda S</span><br />
|
||
<span class="medgenPMjournal">Intern Med</span>
|
||
2010;49(3):243-7.
|
||
Epub 2010 Feb 1
|
||
doi: 10.2169/internalmedicine.49.2712.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20118603" target="_blank">20118603</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Adult-onset%20citrullinemia%20type%20I%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 (18)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38503330">Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kido J,
|
||
Makris G,
|
||
Santra S,
|
||
Häberle J</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2024 Nov;47(6):1144-1156.
|
||
Epub 2024 Mar 19
|
||
doi: 10.1002/jimd.12722.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38503330" target="_blank">38503330</a><a href="/pmc/articles/PMC11586594" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37242166">Citrin Deficiency: Clinical and Nutritional Features.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Komatsu M,
|
||
Tanaka N,
|
||
Kimura T,
|
||
Yazaki M</span><br />
|
||
<span class="medgenPMjournal">Nutrients</span>
|
||
2023 May 12;15(10)
|
||
doi: 10.3390/nu15102284.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37242166" target="_blank">37242166</a><a href="/pmc/articles/PMC10224054" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34560033">Adult-Onset Type 1 Citrullinemia Presenting as Postpartum Acute Liver Failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wykowski J,
|
||
Keller C,
|
||
Kucybala K</span><br />
|
||
<span class="medgenPMjournal">Am J Med</span>
|
||
2022 Jan;135(1):e22-e23.
|
||
Epub 2021 Sep 22
|
||
doi: 10.1016/j.amjmed.2021.08.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34560033" target="_blank">34560033</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32720136">Lessons for the clinical nephrologist: dietary management of adult-onset type II citrullinemia in chronic kidney disease: a nutritional dilemma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Weng HL,
|
||
Yang FJ,
|
||
Chien YH,
|
||
Chen PR,
|
||
Lin ZX,
|
||
Lee NC,
|
||
Hwu WL</span><br />
|
||
<span class="medgenPMjournal">J Nephrol</span>
|
||
2020 Oct;33(5):1111-1113.
|
||
Epub 2020 Jul 27
|
||
doi: 10.1007/s40620-020-00813-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32720136" target="_blank">32720136</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31532496">Adult onset type II citrullinemia--a great masquerader.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arora S,
|
||
Srivastava MVP,
|
||
Singh MB,
|
||
Goyal V,
|
||
Häberle J,
|
||
Gupta N,
|
||
Prabhakar A,
|
||
Aggarwal B,
|
||
Agarwal A,
|
||
Vishnu VY</span><br />
|
||
<span class="medgenPMjournal">QJM</span>
|
||
2020 Jan 1;113(1):49-51.
|
||
doi: 10.1093/qjmed/hcz238.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31532496" target="_blank">31532496</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Adult-onset%20citrullinemia%20type%20I%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 (77)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33741270">Analysis of daily energy, protein, fat, and carbohydrate intake in citrin-deficient patients: Towards prevention of adult-onset type II citrullinemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Okano Y,
|
||
Okamoto M,
|
||
Yazaki M,
|
||
Inui A,
|
||
Ohura T,
|
||
Murayama K,
|
||
Watanabe Y,
|
||
Tokuhara D,
|
||
Takeshima Y</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2021 May;133(1):63-70.
|
||
Epub 2021 Mar 10
|
||
doi: 10.1016/j.ymgme.2021.03.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33741270" target="_blank">33741270</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32740958">Metabolic basis and treatment of citrin deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hayasaka K</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2021 Jan;44(1):110-117.
|
||
Epub 2020 Aug 26
|
||
doi: 10.1002/jimd.12294.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32740958" target="_blank">32740958</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31255436">Current treatment for citrin deficiency during NICCD and adaptation/compensation stages: Strategy to prevent CTLN2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Okano Y,
|
||
Ohura T,
|
||
Sakamoto O,
|
||
Inui A</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2019 Jul;127(3):175-183.
|
||
Epub 2019 Jun 15
|
||
doi: 10.1016/j.ymgme.2019.06.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31255436" target="_blank">31255436</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23369404">A 73-year-old patient with adult-onset type II citrullinemia successfully treated by sodium pyruvate and arginine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yazaki M,
|
||
Kinoshita M,
|
||
Ogawa S,
|
||
Fujimi S,
|
||
Matsushima A,
|
||
Hineno A,
|
||
Tazawa K,
|
||
Fukushima K,
|
||
Kimura R,
|
||
Yanagida M,
|
||
Matsunaga H,
|
||
Saheki T,
|
||
Ikeda S</span><br />
|
||
<span class="medgenPMjournal">Clin Neurol Neurosurg</span>
|
||
2013 Aug;115(8):1542-5.
|
||
Epub 2013 Jan 28
|
||
doi: 10.1016/j.clineuro.2012.12.027.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23369404" target="_blank">23369404</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20118603">Conventional diet therapy for hyperammonemia is risky in the treatment of hepatic encephalopathy associated with citrin deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fukushima K,
|
||
Yazaki M,
|
||
Nakamura M,
|
||
Tanaka N,
|
||
Kobayashi K,
|
||
Saheki T,
|
||
Takei H,
|
||
Ikeda S</span><br />
|
||
<span class="medgenPMjournal">Intern Med</span>
|
||
2010;49(3):243-7.
|
||
Epub 2010 Feb 1
|
||
doi: 10.2169/internalmedicine.49.2712.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20118603" target="_blank">20118603</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Adult-onset%20citrullinemia%20type%20I%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 (23)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38503330">Clinical landscape of citrin deficiency: A global perspective on a multifaceted condition.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kido J,
|
||
Makris G,
|
||
Santra S,
|
||
Häberle J</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2024 Nov;47(6):1144-1156.
|
||
Epub 2024 Mar 19
|
||
doi: 10.1002/jimd.12722.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38503330" target="_blank">38503330</a><a href="/pmc/articles/PMC11586594" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35725541">Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tavoulari S,
|
||
Lacabanne D,
|
||
Thangaratnarajah C,
|
||
Kunji ERS</span><br />
|
||
<span class="medgenPMjournal">Trends Endocrinol Metab</span>
|
||
2022 Aug;33(8):539-553.
|
||
Epub 2022 Jun 17
|
||
doi: 10.1016/j.tem.2022.05.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35725541" target="_blank">35725541</a><a href="/pmc/articles/PMC7614230" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35142380">Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kido J,
|
||
Häberle J,
|
||
Sugawara K,
|
||
Tanaka T,
|
||
Nagao M,
|
||
Sawada T,
|
||
Wada Y,
|
||
Numakura C,
|
||
Murayama K,
|
||
Watanabe Y,
|
||
Kojima-Ishii K,
|
||
Sasai H,
|
||
Kosugiyama K,
|
||
Nakamura K</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2022 May;45(3):431-444.
|
||
Epub 2022 Feb 25
|
||
doi: 10.1002/jimd.12483.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35142380" target="_blank">35142380</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29651749">Medium-chain triglycerides supplement therapy with a low-carbohydrate formula can supply energy and enhance ammonia detoxification in the hepatocytes of patients with adult-onset type II citrullinemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hayasaka K,
|
||
Numakura C,
|
||
Yamakawa M,
|
||
Mitsui T,
|
||
Watanabe H,
|
||
Haga H,
|
||
Yazaki M,
|
||
Ohira H,
|
||
Ochiai Y,
|
||
Tahara T,
|
||
Nakahara T,
|
||
Yamashiki N,
|
||
Nakayama T,
|
||
Kon T,
|
||
Mitsubuchi H,
|
||
Yoshida H</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2018 Sep;41(5):777-784.
|
||
Epub 2018 Apr 12
|
||
doi: 10.1007/s10545-018-0176-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29651749" target="_blank">29651749</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22277121">Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kikuchi A,
|
||
Arai-Ichinoi N,
|
||
Sakamoto O,
|
||
Matsubara Y,
|
||
Saheki T,
|
||
Kobayashi K,
|
||
Ohura T,
|
||
Kure S</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2012 Apr;105(4):553-8.
|
||
Epub 2012 Jan 8
|
||
doi: 10.1016/j.ymgme.2011.12.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22277121" target="_blank">22277121</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Adult-onset%20citrullinemia%20type%20I%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 (27)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35725541">Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tavoulari S,
|
||
Lacabanne D,
|
||
Thangaratnarajah C,
|
||
Kunji ERS</span><br />
|
||
<span class="medgenPMjournal">Trends Endocrinol Metab</span>
|
||
2022 Aug;33(8):539-553.
|
||
Epub 2022 Jun 17
|
||
doi: 10.1016/j.tem.2022.05.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35725541" target="_blank">35725541</a><a href="/pmc/articles/PMC7614230" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35279366">The diagnostic challenge of mild citrulline elevation at newborn screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Siri B,
|
||
Olivieri G,
|
||
Angeloni A,
|
||
Cairoli S,
|
||
Carducci C,
|
||
Cotugno G,
|
||
Di Michele S,
|
||
Giovanniello T,
|
||
La Marca G,
|
||
Lepri FR,
|
||
Novelli A,
|
||
Rossi C,
|
||
Semeraro M,
|
||
Dionisi-Vici C</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2022 Apr;135(4):327-332.
|
||
Epub 2022 Feb 20
|
||
doi: 10.1016/j.ymgme.2022.02.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35279366" target="_blank">35279366</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32962675">Hypoketotic hypoglycemia in citrin deficiency: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wada Y,
|
||
Arai-Ichinoi N,
|
||
Kikuchi A,
|
||
Sakamoto O,
|
||
Kure S</span><br />
|
||
<span class="medgenPMjournal">BMC Pediatr</span>
|
||
2020 Sep 22;20(1):444.
|
||
doi: 10.1186/s12887-020-02349-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32962675" target="_blank">32962675</a><a href="/pmc/articles/PMC7507238" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31256334">Chronic pancreatitis and pancreatic pseudocyst with adult-onset type II citrullinemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kakiuchi T,
|
||
Nakayama A,
|
||
Akiyama T,
|
||
Martsuo M</span><br />
|
||
<span class="medgenPMjournal">Clin J Gastroenterol</span>
|
||
2020 Feb;13(1):97-101.
|
||
Epub 2019 Jun 29
|
||
doi: 10.1007/s12328-019-01011-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31256334" target="_blank">31256334</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20118603">Conventional diet therapy for hyperammonemia is risky in the treatment of hepatic encephalopathy associated with citrin deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fukushima K,
|
||
Yazaki M,
|
||
Nakamura M,
|
||
Tanaka N,
|
||
Kobayashi K,
|
||
Saheki T,
|
||
Takei H,
|
||
Ikeda S</span><br />
|
||
<span class="medgenPMjournal">Intern Med</span>
|
||
2010;49(3):243-7.
|
||
Epub 2010 Feb 1
|
||
doi: 10.2169/internalmedicine.49.2712.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20118603" target="_blank">20118603</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Adult-onset%20citrullinemia%20type%20I%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 (27)</a></div></div>
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