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<meta name="keywords" content="C5244016, ccad, ccds, cds, cerebral creatine deficiency syndrome, creatine deficiency syndrome, creatine deficiency syndromes, disease or syndrome, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="The creatine deficiency disorders (CDDs), inborn errors of creatine metabolism and transport, comprise three disorders: the creatine biosynthesis disorders guanidinoacetate methyltransferase (GAMT) deficiency and L-arginine:glycine amidinotransferase (AGAT) deficiency; and creatine transporter (CRTR) deficiency. Developmental delay and cognitive dysfunction or intellectual disability and speech-language disorder are common to all three CDDs. Onset of clinical manifestations of GAMT deficiency (reported in ~130 individuals) is between ages three months and two years; in addition to developmental delays, the majority of individuals have epilepsy and develop a behavior disorder (e.g., hyperactivity, autism, or self-injurious behavior), and about 30% have movement disorder. AGAT deficiency has been reported in 16 individuals; none have had epilepsy or movement disorders. Clinical findings of CRTR deficiency in affected males (reported in ~130 individuals) in addition to developmental delays include epilepsy (variable seizure types and may be intractable) and behavior disorders (e.g., attention deficit and/or hyperactivity, autistic features, impulsivity, social anxiety), hypotonia, and (less commonly) a movement disorder. Poor weight gain with constipation and prolonged QTc on EKG have been reported. While mild-to-moderate intellectual disability is commonly observed up to age four years, the majority of adult males with CRTR deficiency have been reported to have severe intellectual disability. Females heterozygous for CRTR deficiency are typically either asymptomatic or have mild intellectual disability, although a more severe phenotype resembling the male phenotype has been reported." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
|
||
UID=1826001
|
||
ConceptID=C5244016
|
||
-->
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<!--imgCountBooks = 2--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (2)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK3794/bin/creatine-Image002.gif" src-large="/books/NBK3794/bin/creatine-Image002.jpg" /></a><br /><a href="/books/NBK3794/figure/creatine.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK3794/bin/creatine-Image001.gif" src-large="/books/NBK3794/bin/creatine-Image001.jpg" /></a><br /><a href="/books/NBK3794/figure/creatine.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Cerebral creatine deficiency syndrome<span class="h1sub">(CCAD)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1826001</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:">C5244016</span></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>CCAD; Creatine deficiency syndromes</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="divPopper rprt" id="moi_375779"><div><strong>X-linked recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375779</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.">C1845977</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/375779">This record</a></div></div>
|
||
<div class="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</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.">CN307044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_375779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked recessive inheritance</a><span> (Orphanet)</span></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/6535">SLC6A8</a>, <a target="_blank" href="/gene/2628">GATM</a>, <a target="_blank" href="/gene/2593">GAMT</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0000456" target="_blank">MONDO:0000456</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS300352" target="_blank">PS300352</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=79172">ORPHA79172</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_101">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK3794" target="_blank">Creatine Deficiency Disorders</a></div><div>The creatine deficiency disorders (CDDs), inborn errors of creatine metabolism and transport, comprise three disorders: the creatine biosynthesis disorders guanidinoacetate methyltransferase (GAMT) deficiency and L-arginine:glycine amidinotransferase (AGAT) deficiency; and creatine transporter (CRTR) deficiency. Developmental delay and cognitive dysfunction or intellectual disability and speech-language disorder are common to all three CDDs. Onset of clinical manifestations of GAMT deficiency (reported in ~130 individuals) is between ages three months and two years; in addition to developmental delays, the majority of individuals have epilepsy and develop a behavior disorder (e.g., hyperactivity, autism, or self-injurious behavior), and about 30% have movement disorder. AGAT deficiency has been reported in 16 individuals; none have had epilepsy or movement disorders. Clinical findings of CRTR deficiency in affected males (reported in ~130 individuals) in addition to developmental delays include epilepsy (variable seizure types and may be intractable) and behavior disorders (e.g., attention deficit and/or hyperactivity, autistic features, impulsivity, social anxiety), hypotonia, and (less commonly) a movement disorder. Poor weight gain with constipation and prolonged QTc on EKG have been reported. While mild-to-moderate intellectual disability is commonly observed up to age four years, the majority of adult males with CRTR deficiency have been reported to have severe intellectual disability. Females heterozygous for CRTR deficiency are typically either asymptomatic or have mild intellectual disability, although a more severe phenotype resembling the male phenotype has been reported. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK3794#creatine.Summary" target="NBK3794">Summary</a> | <a class="medgenPMinfo" href="/books/NBK3794#creatine.GeneReview_Scope" target="NBK3794">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK3794#creatine.Diagnosis" target="NBK3794">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK3794#creatine.Clinical_Characteristics" target="NBK3794">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK3794#creatine.Genetically_Related_Allelic_Dis" target="NBK3794">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK3794#creatine.Differential_Diagnosis" target="NBK3794">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK3794#creatine.Management" target="NBK3794">Management</a> | <a class="medgenPMinfo" href="/books/NBK3794#creatine.Genetic_Counseling" target="NBK3794">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK3794#creatine.Resources" target="NBK3794">Resources</a> | <a class="medgenPMinfo" href="/books/NBK3794#creatine.Molecular_Genetics" target="NBK3794">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK3794#creatine.Chapter_Notes" target="NBK3794">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK3794#creatine.References" target="NBK3794">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Saadet Mercimek-Andrews | Gajja S Salomons <a href="/books/NBK3794" target="NBK3794" title="NCBI Bookshelf: Creatine Deficiency Disorders">view full author information</a></div></div>
|
||
</div>
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<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></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 Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C5244016[DISCUI]&test_type=Clinical" ref="ncbi_uid=1826001">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK3794/" ref="ncbi_uid=1826001">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1826001" ref="ncbi_uid=1826001">V</a></span></span><span class="TLline">Cerebral creatine deficiency syndrome</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2675179[DISCUI]&test_type=Clinical" ref="ncbi_uid=436367">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=436367" target="_blank" href="/omim/602360">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK3794/" ref="ncbi_uid=436367">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=436367" ref="ncbi_uid=436367">V</a></span></span><span class="TLline"><a href="/medgen/436367" ref="tree=GTR&ncbi_uid=436367&link_uid=436367" title="View MedGen record for 'Arginine:glycine amidinotransferase deficiency'">Arginine:glycine amidinotransferase deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1845862[DISCUI]&test_type=Clinical" ref="ncbi_uid=337451">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=337451" target="_blank" href="/omim/300036">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK3794/" ref="ncbi_uid=337451">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=337451" ref="ncbi_uid=337451">V</a></span></span><span class="TLline"><a href="/medgen/337451" ref="tree=GTR&ncbi_uid=337451&link_uid=337451" title="View MedGen record for 'Creatine transporter deficiency'">Creatine transporter deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0574080[DISCUI]&test_type=Clinical" ref="ncbi_uid=154356">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=154356" target="_blank" href="/omim/601240">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK3794/" ref="ncbi_uid=154356">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=154356" ref="ncbi_uid=154356">V</a></span></span><span class="TLline"><a href="/medgen/154356" ref="tree=GTR&ncbi_uid=154356&link_uid=154356" title="View MedGen record for 'Deficiency of guanidinoacetate methyltransferase'">Deficiency of guanidinoacetate methyltransferase</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="matched_ds">Cerebral creatine deficiency syndrome</span><ul><li><span class="TLline"><a href="/medgen/436367" ref="tree=MeSH" title="MedGen record for Arginine:glycine amidinotransferase deficiency">Arginine:glycine amidinotransferase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/337451" ref="tree=MeSH" title="MedGen record for Creatine transporter deficiency">Creatine transporter deficiency</a></span></li><li><span class="TLline"><a href="/medgen/154356" ref="tree=MeSH" title="MedGen record for Deficiency of guanidinoacetate methyltransferase">Deficiency of guanidinoacetate methyltransferase</a></span></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
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|
||
<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/31570297">Priorities for Newborn Screening of Genetic Epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hess-Homeier DL,
|
||
Cunniff C,
|
||
Grinspan ZM</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2019 Dec;101:83-85.
|
||
Epub 2019 Jul 29
|
||
doi: 10.1016/j.pediatrneurol.2019.07.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31570297" target="_blank">31570297</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22cerebral%20creatine%20deficiency%20syndrome%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/35588794">Identification of novel variations in SLC6A8 and GAMT genes causing cerebral creatine deficiency syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shen M,
|
||
Yang G,
|
||
Chen Z,
|
||
Yang K,
|
||
Dong H,
|
||
Yin C,
|
||
Cheng Y,
|
||
Zhang C,
|
||
Gu F,
|
||
Yang Y,
|
||
Tian Y</span><br />
|
||
<span class="medgenPMjournal">Clin Chim Acta</span>
|
||
2022 Jul 1;532:29-36.
|
||
Epub 2022 May 16
|
||
doi: 10.1016/j.cca.2022.05.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35588794" target="_blank">35588794</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebral%20creatine%20deficiency%20syndrome%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 (1)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36633690">Expanding the neuroimaging findings of guanidinoacetate methyltransferase deficiency in an Iranian girl with a homozygous frameshift variant in the GAMT.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Afjei SA,
|
||
Mohammadi MF,
|
||
Pourbakhtyaran E,
|
||
Ghabeli H,
|
||
Ashrafi MR,
|
||
Haghighi R,
|
||
Rasulinezhad M,
|
||
Pak N,
|
||
Tavasoli AR,
|
||
Heidari M</span><br />
|
||
<span class="medgenPMjournal">Neurogenetics</span>
|
||
2023 Apr;24(2):67-78.
|
||
Epub 2023 Jan 12
|
||
doi: 10.1007/s10048-022-00708-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36633690" target="_blank">36633690</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36604934">Inborn Errors of Metabolism Associated With Autism Among Children: A Multicenter Study from Iran.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moravej H,
|
||
Inaloo S,
|
||
Nahid S,
|
||
Mazloumi S,
|
||
Nemati H,
|
||
Moosavian T,
|
||
Nasiri J,
|
||
Ghasemi F,
|
||
Alaei MR,
|
||
Dalili S,
|
||
Aminzadeh M,
|
||
Katibeh P,
|
||
Amirhakimi A,
|
||
Yazdani N,
|
||
Ilkhanipoor H,
|
||
Afshar Z,
|
||
Hadipour F,
|
||
Hadipour Z</span><br />
|
||
<span class="medgenPMjournal">Indian Pediatr</span>
|
||
2023 Mar 15;60(3):193-196.
|
||
Epub 2023 Jan 2
|
||
<span class="bold">PMID: </span><a href="/pubmed/36604934" target="_blank">36604934</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35588794">Identification of novel variations in SLC6A8 and GAMT genes causing cerebral creatine deficiency syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shen M,
|
||
Yang G,
|
||
Chen Z,
|
||
Yang K,
|
||
Dong H,
|
||
Yin C,
|
||
Cheng Y,
|
||
Zhang C,
|
||
Gu F,
|
||
Yang Y,
|
||
Tian Y</span><br />
|
||
<span class="medgenPMjournal">Clin Chim Acta</span>
|
||
2022 Jul 1;532:29-36.
|
||
Epub 2022 May 16
|
||
doi: 10.1016/j.cca.2022.05.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35588794" target="_blank">35588794</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35449147">Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thistlethwaite LR,
|
||
Li X,
|
||
Burrage LC,
|
||
Riehle K,
|
||
Hacia JG,
|
||
Braverman N,
|
||
Wangler MF,
|
||
Miller MJ,
|
||
Elsea SH,
|
||
Milosavljevic A</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2022 Apr 21;12(1):6556.
|
||
doi: 10.1038/s41598-022-10415-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35449147" target="_blank">35449147</a><a href="/pmc/articles/PMC9023513" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31634934">Neuroimaging Spectrum of Inherited Neurotransmitter Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lim YT,
|
||
Mankad K,
|
||
Kinali M,
|
||
Tan AP</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
2020 Feb;51(1):6-21.
|
||
Epub 2019 Oct 21
|
||
doi: 10.1055/s-0039-1698422.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31634934" target="_blank">31634934</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebral%20creatine%20deficiency%20syndrome%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">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35449147">Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thistlethwaite LR,
|
||
Li X,
|
||
Burrage LC,
|
||
Riehle K,
|
||
Hacia JG,
|
||
Braverman N,
|
||
Wangler MF,
|
||
Miller MJ,
|
||
Elsea SH,
|
||
Milosavljevic A</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2022 Apr 21;12(1):6556.
|
||
doi: 10.1038/s41598-022-10415-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35449147" target="_blank">35449147</a><a href="/pmc/articles/PMC9023513" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebral%20creatine%20deficiency%20syndrome%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 (1)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35588794">Identification of novel variations in SLC6A8 and GAMT genes causing cerebral creatine deficiency syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shen M,
|
||
Yang G,
|
||
Chen Z,
|
||
Yang K,
|
||
Dong H,
|
||
Yin C,
|
||
Cheng Y,
|
||
Zhang C,
|
||
Gu F,
|
||
Yang Y,
|
||
Tian Y</span><br />
|
||
<span class="medgenPMjournal">Clin Chim Acta</span>
|
||
2022 Jul 1;532:29-36.
|
||
Epub 2022 May 16
|
||
doi: 10.1016/j.cca.2022.05.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35588794" target="_blank">35588794</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35449147">Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thistlethwaite LR,
|
||
Li X,
|
||
Burrage LC,
|
||
Riehle K,
|
||
Hacia JG,
|
||
Braverman N,
|
||
Wangler MF,
|
||
Miller MJ,
|
||
Elsea SH,
|
||
Milosavljevic A</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2022 Apr 21;12(1):6556.
|
||
doi: 10.1038/s41598-022-10415-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35449147" target="_blank">35449147</a><a href="/pmc/articles/PMC9023513" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32207963">Classification of the Molecular Defects Associated with Pathogenic Variants of the SLC6A8 Creatine Transporter.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Salazar MD,
|
||
Zelt NB,
|
||
Saldivar R,
|
||
Kuntz CP,
|
||
Chen S,
|
||
Penn WD,
|
||
Bonneau R,
|
||
Koehler Leman J,
|
||
Schlebach JP</span><br />
|
||
<span class="medgenPMjournal">Biochemistry</span>
|
||
2020 Apr 7;59(13):1367-1377.
|
||
Epub 2020 Mar 30
|
||
doi: 10.1021/acs.biochem.9b00956.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32207963" target="_blank">32207963</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Cerebral%20creatine%20deficiency%20syndrome%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 (3)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5244016%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (8)</a></li>
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<li><a href="/gtr/tests?term=C5244016%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (3)</a></li>
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