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<meta name="keywords" content="C2675179, agat deficiency, arginine-glycine amidinotransferase deficiency, arginine:glycine amidinotransferase deficiency, ccds3, cerebral creatine deficiency syndrome 3, cerebral creatine deficiency syndrome type 3, creatine deficiency syndrome due to agat deficiency, creatine deficiency syndrome due to arginine:glycine amidinotransferase deficiency, disease or syndrome, disorder of glycine amidinotransferase activity, gatm, gatm deficiency, glycine amidinotransferase activity disease, l-arginine:glycine amidinotransferase deficiency, l-arginine:glycine aminidotransferase deficiency, 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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<!--
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||
UID=436367
|
||
ConceptID=C2675179
|
||
-->
|
||
<!--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">Arginine:glycine amidinotransferase deficiency<span class="h1sub">(CCDS3)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436367</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.">C2675179</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>AGAT deficiency; CCDS3; Cerebral creatine deficiency syndrome 3; Creatine deficiency syndrome due to AGAT deficiency; GATM deficiency; L-Arginine:Glycine Amidinotransferase Deficiency</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Cerebral creatine deficiency syndrome 3 (702440000); Arginine:glycine amidinotransferase deficiency (702440000); L-arginine:glycine amidinotransferase deficiency (702440000); Creatine deficiency syndrome due to arginine:glycine amidinotransferase deficiency (702440000)</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><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="GATM - ID: 2628 - NCBI Gene" href="/gene/2628" class="medgenPMinfo">GATM</a> (15q21.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012996" target="_blank">MONDO:0012996</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/612718" target="_blank">612718</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=35704">ORPHA35704</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>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<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>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Cerebral creatine deficiency syndrome-3 (CCDS3) is an autosomal recessive disorder characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain (Schulze, 2003). Most patients develop a myopathy characterized by muscle weakness and atrophy later in life. Oral creatine supplementation can offer symptom improvement (summary by Edvardson et al., 2010).
|
||
For a general phenotypic description and a discussion of genetic heterogeneity of cerebral creatine deficiency syndrome, see CCDS1 (300352). <a target="_blank" href="http://www.omim.org/entry/612718">http://www.omim.org/entry/612718</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Arginine:glycine amidinotransferase deficiency is an inherited disorder that primarily affects the brain. People with this disorder have mild to moderate intellectual disability and delayed speech development. Some affected individuals develop autistic behaviors that affect communication and social interaction. They may experience seizures, especially when they have a fever.<br /><br />Children with arginine:glycine amidinotransferase deficiency may not gain weight and grow at the expected rate (failure to thrive), and have delayed development of motor skills such as sitting and walking. Affected individuals may also have weak muscle tone and tend to tire easily. <a target="_blank" href="https://medlineplus.gov/genetics/condition/arginineglycine-amidinotransferase-deficiency">https://medlineplus.gov/genetics/condition/arginineglycine-amidinotransferase-deficiency</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
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<div class="divPopper rprt" id="clin_66037"><div><strong>Inborn organic aciduria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66037</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.">C0241775</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Excretion of non-amino organic acids in urine.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/66037">Feature record</a> | <a href="/medgen?term=%22Inborn%20organic%20aciduria%22%5BClinical%20Features%5D%20OR%2066037%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_1864133"><div><strong>Decreased urinary creatine level</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1864133</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.">C5937476</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">The amount of creatine in the urine, normalized for urine concentration, is below the lower limit of normal.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1864133">Feature record</a> | <a href="/medgen?term=%22Decreased%20urinary%20creatine%20level%22%5BClinical%20Features%5D%20OR%201864133%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_746019"><div><strong>Failure to thrive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>746019</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.">C2315100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/746019">Feature record</a> | <a href="/medgen?term=%22Failure%20to%20thrive%22%5BClinical%20Features%5D%20OR%20746019%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_13966"><div><strong>Autism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>13966</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.">C0004352</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
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<div class="spaceAbove">Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). Levy et al. (2009) provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options. Genetic Heterogeneity of Autism Autism is considered to be a complex multifactorial disorder involving many genes. Accordingly, several loci have been identified, some or all of which may contribute to the phenotype. Included in this entry is AUTS1, which has been mapped to chromosome 7q22. Other susceptibility loci include AUTS3 (608049), which maps to chromosome 13q14; AUTS4 (608636), which maps to chromosome 15q11; AUTS6 (609378), which maps to chromosome 17q11; AUTS7 (610676), which maps to chromosome 17q21; AUTS8 (607373), which maps to chromosome 3q25-q27; AUTS9 (611015), which maps to chromosome 7q31; AUTS10 (611016), which maps to chromosome 7q36; AUTS11 (610836), which maps to chromosome 1q41; AUTS12 (610838), which maps to chromosome 21p13-q11; AUTS13 (610908), which maps to chromosome 12q14; AUTS14A (611913), which has been found in patients with a deletion of a region of 16p11.2; AUTS14B (614671), which has been found in patients with a duplication of a region of 16p11.2; AUTS15 (612100), associated with mutation in the CNTNAP2 gene (604569) on chromosome 7q35-q36; AUTS16 (613410), associated with mutation in the SLC9A9 gene (608396) on chromosome 3q24; AUTS17 (613436), associated with mutation in the SHANK2 gene (603290) on chromosome 11q13; AUTS18 (615032), associated with mutation in the CHD8 gene (610528) on chromosome 14q11; AUTS19 (615091), associated with mutation in the EIF4E gene (133440) on chromosome 4q23; and AUTS20 (618830), associated with mutation in the NLGN1 gene (600568) on chromosome 3q26. (NOTE: the symbol 'AUTS2' has been used to refer to a gene on chromosome 7q11 (KIAA0442; 607270) and therefore is not used as a part of this autism locus series.) There are several X-linked forms of autism susceptibility: AUTSX1 (300425), associated with mutations in the NLGN3 gene (300336); AUTSX2 (300495), associated with mutations in NLGN4 (300427); AUTSX3 (300496), associated with mutations in MECP2 (300005); AUTSX4 (300830), associated with variation in the region on chromosome Xp22.11 containing the PTCHD1 gene (300828); AUTSX5 (300847), associated with mutations in the RPL10 gene (312173); and AUTSX6 (300872), associated with mutation in the TMLHE gene (300777). A locus on chromosome 2q (606053) associated with a phenotype including intellectual disability and speech deficits was formerly designated AUTS5. Folstein and Rosen-Sheidley (2001) reviewed the genetics of autism.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/13966">Feature record</a> | <a href="/medgen?term=%22Autism%22%5BClinical%20Features%5D%20OR%2013966%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_105318"><div><strong>Delayed speech and language development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105318</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.">C0454644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">A degree of language development that is significantly below the norm for a child of a specified age.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/105318">Feature record</a> | <a href="/medgen?term=%22Delayed%20speech%20and%20language%20development%22%5BClinical%20Features%5D%20OR%20105318%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</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.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
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<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_1369880"><div><strong>Reduced brain creatine level by MRS</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1369880</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.">C4476570</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1369880">Feature record</a> | <a href="/medgen?term=%22Reduced%20brain%20creatine%20level%20by%20MRS%22%5BClinical%20Features%5D%20OR%201369880%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_65865"><div><strong>Gowers sign</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65865</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.">C0234182</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/65865">Feature record</a> | <a href="/medgen?term=%22Gowers%20sign%22%5BClinical%20Features%5D%20OR%2065865%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_1864029"><div><strong>Reduced tissue arginine:glycine amidinotransferase activity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1864029</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.">C5937334</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Activity of L-arginine:glycine amidinotransferase (GATM; EC 2.1.4.1) in the tissues below the lower limit of normal. GATM activity can be measured in multiple tissues including leukocytes and cultured fibroblasts.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1864029">Feature record</a> | <a href="/medgen?term=%22Reduced%20tissue%20arginine%3Aglycine%20amidinotransferase%20activity%22%5BClinical%20Features%5D%20OR%201864029%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1864029" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced tissue arginine:glycine amidinotransferase activity</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1864133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased urinary creatine level</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66037" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Inborn organic aciduria</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65865" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gowers sign</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_13966" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autism</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed speech and language development</a></span></li><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1369880" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced brain creatine level by MRS</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_746019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Failure to thrive</a></span></li></ul></li></ul></div></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><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="TLclosed"><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"><a href="/medgen/1826001" ref="tree=GTR&ncbi_uid=1826001&link_uid=1826001" title="View MedGen record for 'Cerebral creatine deficiency syndrome'">Cerebral creatine deficiency syndrome</a></span><ul><li class="matched_ds"><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">Arginine:glycine amidinotransferase deficiency</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="TLline"><a href="/medgen/1826001" ref="tree=MeSH" title="MedGen record for Cerebral creatine deficiency syndrome">Cerebral creatine deficiency syndrome</a></span><ul><li><span class="matched_ds">Arginine:glycine amidinotransferase deficiency</span></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=10393&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Arginine:glycine amidinotransferase deficiency</span> in Orphanet.</div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<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>
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<div class="nl"><a target="_blank" href="/pubmed/18652076">Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Stockler S,
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Schutz PW,
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||
Salomons GS</span><br />
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||
<span class="medgenPMjournal">Subcell Biochem</span>
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||
2007;46:149-66.
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||
doi: 10.1007/978-1-4020-6486-9_8.
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||
<span class="bold">PMID: </span><a href="/pubmed/18652076" target="_blank">18652076</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22arginine%3Aglycine%20amidinotransferase%20deficiency%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/26542286">Creatine biosynthesis and transport in health and disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Joncquel-Chevalier Curt M,
|
||
Voicu PM,
|
||
Fontaine M,
|
||
Dessein AF,
|
||
Porchet N,
|
||
Mention-Mulliez K,
|
||
Dobbelaere D,
|
||
Soto-Ares G,
|
||
Cheillan D,
|
||
Vamecq J</span><br />
|
||
<span class="medgenPMjournal">Biochimie</span>
|
||
2015 Dec;119:146-65.
|
||
Epub 2015 Nov 2
|
||
doi: 10.1016/j.biochi.2015.10.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26542286" target="_blank">26542286</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25521922">Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clark JF,
|
||
Cecil KM</span><br />
|
||
<span class="medgenPMjournal">Pediatr Res</span>
|
||
2015 Mar;77(3):398-405.
|
||
Epub 2014 Dec 18
|
||
doi: 10.1038/pr.2014.203.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25521922" target="_blank">25521922</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25474016">L-homoarginine and cardiovascular disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Atzler D,
|
||
Schwedhelm E,
|
||
Choe CU</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Clin Nutr Metab Care</span>
|
||
2015 Jan;18(1):83-8.
|
||
doi: 10.1097/MCO.0000000000000123.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25474016" target="_blank">25474016</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20159424">Creatine and creatine deficiency syndromes: biochemical and clinical aspects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nasrallah F,
|
||
Feki M,
|
||
Kaabachi N</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2010 Mar;42(3):163-71.
|
||
doi: 10.1016/j.pediatrneurol.2009.07.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20159424" target="_blank">20159424</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18652076">Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stockler S,
|
||
Schutz PW,
|
||
Salomons GS</span><br />
|
||
<span class="medgenPMjournal">Subcell Biochem</span>
|
||
2007;46:149-66.
|
||
doi: 10.1007/978-1-4020-6486-9_8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18652076" target="_blank">18652076</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Arginine%3Aglycine%20amidinotransferase%20deficiency%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 (9)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27233232">Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DesRoches CL,
|
||
Bruun T,
|
||
Wang P,
|
||
Marshall CR,
|
||
Mercimek-Mahmutoglu S</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2016 Sep;37(9):926-32.
|
||
Epub 2016 Jun 27
|
||
doi: 10.1002/humu.23018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27233232" target="_blank">27233232</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26542286">Creatine biosynthesis and transport in health and disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Joncquel-Chevalier Curt M,
|
||
Voicu PM,
|
||
Fontaine M,
|
||
Dessein AF,
|
||
Porchet N,
|
||
Mention-Mulliez K,
|
||
Dobbelaere D,
|
||
Soto-Ares G,
|
||
Cheillan D,
|
||
Vamecq J</span><br />
|
||
<span class="medgenPMjournal">Biochimie</span>
|
||
2015 Dec;119:146-65.
|
||
Epub 2015 Nov 2
|
||
doi: 10.1016/j.biochi.2015.10.022.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26542286" target="_blank">26542286</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26490222">Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stockler-Ipsiroglu S,
|
||
Apatean D,
|
||
Battini R,
|
||
DeBrosse S,
|
||
Dessoffy K,
|
||
Edvardson S,
|
||
Eichler F,
|
||
Johnston K,
|
||
Koeller DM,
|
||
Nouioua S,
|
||
Tazir M,
|
||
Verma A,
|
||
Dowling MD,
|
||
Wierenga KJ,
|
||
Wierenga AM,
|
||
Zhang V,
|
||
Wong LJ</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2015 Dec;116(4):252-9.
|
||
Epub 2015 Oct 17
|
||
doi: 10.1016/j.ymgme.2015.10.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26490222" target="_blank">26490222</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20159424">Creatine and creatine deficiency syndromes: biochemical and clinical aspects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nasrallah F,
|
||
Feki M,
|
||
Kaabachi N</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2010 Mar;42(3):163-71.
|
||
doi: 10.1016/j.pediatrneurol.2009.07.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20159424" target="_blank">20159424</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12709373">Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verhoeven NM,
|
||
Schor DS,
|
||
Roos B,
|
||
Battini R,
|
||
Stöckler-Ipsiroglu S,
|
||
Salomons GS,
|
||
Jakobs C</span><br />
|
||
<span class="medgenPMjournal">Clin Chem</span>
|
||
2003 May;49(5):803-5.
|
||
doi: 10.1373/49.5.803.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12709373" target="_blank">12709373</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Arginine%3Aglycine%20amidinotransferase%20deficiency%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 (19)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/28971744">Benefits and drawbacks of guanidinoacetic acid as a possible treatment to replenish cerebral creatine in AGAT deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ostojic SM</span><br />
|
||
<span class="medgenPMjournal">Nutr Neurosci</span>
|
||
2019 May;22(5):302-305.
|
||
Epub 2017 Oct 3
|
||
doi: 10.1080/1028415X.2017.1385176.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28971744" target="_blank">28971744</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28148286">Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Battini R,
|
||
Alessandrì MG,
|
||
Casalini C,
|
||
Casarano M,
|
||
Tosetti M,
|
||
Cioni G</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2017 Feb 2;12(1):21.
|
||
doi: 10.1186/s13023-017-0577-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28148286" target="_blank">28148286</a><a href="/pmc/articles/PMC5289057" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26490222">Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stockler-Ipsiroglu S,
|
||
Apatean D,
|
||
Battini R,
|
||
DeBrosse S,
|
||
Dessoffy K,
|
||
Edvardson S,
|
||
Eichler F,
|
||
Johnston K,
|
||
Koeller DM,
|
||
Nouioua S,
|
||
Tazir M,
|
||
Verma A,
|
||
Dowling MD,
|
||
Wierenga KJ,
|
||
Wierenga AM,
|
||
Zhang V,
|
||
Wong LJ</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2015 Dec;116(4):252-9.
|
||
Epub 2015 Oct 17
|
||
doi: 10.1016/j.ymgme.2015.10.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26490222" target="_blank">26490222</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20625172">Arginine:glycine amidinotransferase deficiency: a treatable metabolic encephalomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verma A</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2010 Jul 13;75(2):186-8.
|
||
doi: 10.1212/WNL.0b013e3181e7cabd.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20625172" target="_blank">20625172</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11555793">Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Item CB,
|
||
Stöckler-Ipsiroglu S,
|
||
Stromberger C,
|
||
Mühl A,
|
||
Alessandrì MG,
|
||
Bianchi MC,
|
||
Tosetti M,
|
||
Fornai F,
|
||
Cioni G</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2001 Nov;69(5):1127-33.
|
||
Epub 2001 Sep 10
|
||
doi: 10.1086/323765.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11555793" target="_blank">11555793</a><a href="/pmc/articles/PMC1274356" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Arginine%3Aglycine%20amidinotransferase%20deficiency%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 (9)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27233232">Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DesRoches CL,
|
||
Bruun T,
|
||
Wang P,
|
||
Marshall CR,
|
||
Mercimek-Mahmutoglu S</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2016 Sep;37(9):926-32.
|
||
Epub 2016 Jun 27
|
||
doi: 10.1002/humu.23018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27233232" target="_blank">27233232</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25521922">Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clark JF,
|
||
Cecil KM</span><br />
|
||
<span class="medgenPMjournal">Pediatr Res</span>
|
||
2015 Mar;77(3):398-405.
|
||
Epub 2014 Dec 18
|
||
doi: 10.1038/pr.2014.203.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25521922" target="_blank">25521922</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18392746">AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Braissant O,
|
||
Henry H</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2008 Apr;31(2):230-9.
|
||
Epub 2008 Apr 4
|
||
doi: 10.1007/s10545-008-0826-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18392746" target="_blank">18392746</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Arginine%3Aglycine%20amidinotransferase%20deficiency%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 (3)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27233232">Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DesRoches CL,
|
||
Bruun T,
|
||
Wang P,
|
||
Marshall CR,
|
||
Mercimek-Mahmutoglu S</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2016 Sep;37(9):926-32.
|
||
Epub 2016 Jun 27
|
||
doi: 10.1002/humu.23018.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27233232" target="_blank">27233232</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24877651">Stable isotope dilution microquantification of creatine metabolites in plasma, whole blood and dried blood spots for pharmacological studies in mouse models of creatine deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tran C,
|
||
Yazdanpanah M,
|
||
Kyriakopoulou L,
|
||
Levandovskiy V,
|
||
Zahid H,
|
||
Naufer A,
|
||
Isbrandt D,
|
||
Schulze A</span><br />
|
||
<span class="medgenPMjournal">Clin Chim Acta</span>
|
||
2014 Sep 25;436:160-8.
|
||
Epub 2014 May 28
|
||
doi: 10.1016/j.cca.2014.05.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24877651" target="_blank">24877651</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18392746">AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Braissant O,
|
||
Henry H</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2008 Apr;31(2):230-9.
|
||
Epub 2008 Apr 4
|
||
doi: 10.1007/s10545-008-0826-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18392746" target="_blank">18392746</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Arginine%3Aglycine%20amidinotransferase%20deficiency%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=C2675179%5bDISCUI%5d&filter=method%3A1%5F1" target="_blank">Analyte (9)</a></li>
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<li><a href="/gtr/tests?term=C2675179%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (36)</a></li>
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<li><a href="/gtr/tests?term=C2675179%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
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<li><a href="/gtr/tests?term=C2675179%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (43)</a></li>
|
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<li><a href="/gtr/tests?term=C2675179%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (7)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C2675179%5bDISCUI%5d" target="_blank">See all (61)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=602360" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2628[geneid]" target="_blank">View GATM variations in ClinVar</a></li><li><a href="/nuccore/225579093" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=612718" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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