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<meta name="keywords" content="C3151058, ahcy, deficiency of s-adenosylhomocysteine hydrolase, disease or syndrome, hypermethioninemia due to s-adenosylhomocysteine hydrolase deficiency, hypermethioninemia with deficiency of s-adenosylhomocysteine hydrolase, hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency, psychomotor retardation due to s-adenosylhomocysteine hydrolase deficiency, s-adenosylhomocysteine hydrolase 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="Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency is an autosomal recessive severe neurometabolic disorder affecting the muscles, liver, and nervous system, resulting in death in infancy (summary by Bas et al., 2020). Other causes of hypermethioninemia include hereditary tyrosinemia (276700), cystathionine beta-synthase deficiency (236200), and methionine adenosyltransferase deficiency (250850)." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase (Concept Id: C3151058)
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<!--
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UID=462408
|
||
ConceptID=C3151058
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462408</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:">C3151058</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>S-adenosylhomocysteine hydrolase deficiency (724040000); Deficiency of S-adenosylhomocysteine hydrolase (724040000)</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="AHCY - ID: 191 - NCBI Gene" href="/gene/191" class="medgenPMinfo">AHCY</a> (20q11.22)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013404" target="_blank">MONDO:0013404</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/613752" target="_blank">613752</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=88618">ORPHA88618</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_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency is an autosomal recessive severe neurometabolic disorder affecting the muscles, liver, and nervous system, resulting in death in infancy (summary by Bas et al., 2020). Other causes of hypermethioninemia include hereditary tyrosinemia (276700), cystathionine beta-synthase deficiency (236200), and methionine adenosyltransferase deficiency (250850). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />People with hypermethioninemia often do not show any symptoms. Some individuals with hypermethioninemia exhibit intellectual disability and other neurological problems; delays in motor skills such as standing or walking; sluggishness; muscle weakness; liver problems; unusual facial features; and their breath, sweat, or urine may have a smell resembling boiled cabbage.<br /><br />Hypermethioninemia is an excess of a particular protein building block (amino acid), called methionine, in the blood. This condition can occur when methionine is not broken down (metabolized) properly in the body.<br /><br />Hypermethioninemia can occur with other metabolic disorders, such as homocystinuria, tyrosinemia, and galactosemia, which also involve the faulty breakdown of particular molecules. It can also result from liver disease or excessive dietary intake of methionine from consuming large amounts of protein or a methionine-enriched infant formula. The condition is called primary hypermethioninemia when it is not associated with other metabolic disorders or excess methionine in the diet. <a target="_blank" href="https://medlineplus.gov/genetics/condition/hypermethioninemia">https://medlineplus.gov/genetics/condition/hypermethioninemia</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<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>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_209232"><div><strong>Cardiomyopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>209232</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.">C0878544</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/209232">Feature record</a> | <a href="/medgen?term=%22Cardiomyopathy%22%5BClinical%20Features%5D%20OR%20209232%5Buid%5D">Search on this feature</a></div></div>
|
||
<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>
|
||
<div class="spaceAbove">Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.</div>
|
||
<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>
|
||
<div class="divPopper rprt" id="clin_1379023"><div><strong>Decreased hepatic echogenicity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1379023</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.">C4477002</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced echogenicity of liver tissue on sonography, manifested as an increased amount of black on the screen of the sonography device.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1379023">Feature record</a> | <a href="/medgen?term=%22Decreased%20hepatic%20echogenicity%22%5BClinical%20Features%5D%20OR%201379023%5Buid%5D">Search on this feature</a></div></div>
|
||
<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>
|
||
<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>
|
||
<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>
|
||
<div class="divPopper rprt" id="clin_381392"><div><strong>Motor delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381392</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.">C1854301</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of Developmental delay characterized by a delay in acquiring motor skills.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381392">Feature record</a> | <a href="/medgen?term=%22Motor%20delay%22%5BClinical%20Features%5D%20OR%20381392%5Buid%5D">Search on this feature</a></div></div>
|
||
<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>
|
||
<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>
|
||
<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>
|
||
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</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.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_322809"><div><strong>Poor head control</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>322809</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.">C1836038</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Difficulty to maintain correct position of the head while standing or sitting. Infant head lag is observed when the head seems to flop around or lags posteriorly behind the trunk. Several articles have maintained that head lag should be absent by age 3 to 4 months.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/322809">Feature record</a> | <a href="/medgen?term=%22Poor%20head%20control%22%5BClinical%20Features%5D%20OR%20322809%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_336019"><div><strong>Increased variability in muscle fiber diameter</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336019</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.">C1843700</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336019">Feature record</a> | <a href="/medgen?term=%22Increased%20variability%20in%20muscle%20fiber%20diameter%22%5BClinical%20Features%5D%20OR%20336019%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57497"><div><strong>Elevated circulating aspartate aminotransferase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57497</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.">C0151904</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57497">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20aspartate%20aminotransferase%20concentration%22%5BClinical%20Features%5D%20OR%2057497%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_57740"><div><strong>Elevated circulating alanine aminotransferase concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57740</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.">C0151905</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormally high concentration in the circulation of alanine aminotransferase (ALT).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57740">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20alanine%20aminotransferase%20concentration%22%5BClinical%20Features%5D%20OR%2057740%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_68694"><div><strong>Hypoalbuminemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>68694</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.">C0239981</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduction in the concentration of albumin in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/68694">Feature record</a> | <a href="/medgen?term=%22Hypoalbuminemia%22%5BClinical%20Features%5D%20OR%2068694%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_887708"><div><strong>Hypermethioninemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>887708</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.">C4048705</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased concentration of methionine in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/887708">Feature record</a> | <a href="/medgen?term=%22Hypermethioninemia%22%5BClinical%20Features%5D%20OR%20887708%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1707383"><div><strong>Increased circulating creatine kinase MM isoform</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1707383</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.">C5139213</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased concentration of the MM isoform of creatine kinase in the blood circulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1707383">Feature record</a> | <a href="/medgen?term=%22Increased%20circulating%20creatine%20kinase%20MM%20isoform%22%5BClinical%20Features%5D%20OR%201707383%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1863957"><div><strong>Decreased tissue S-adenosylhomocysteine hydrolase activity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1863957</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.">C5937478</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Concentration or activity of S-adenosylhomocysteine hydrolase (EC 3.3.1.1) below the lower limit of normal. FECH enzyme can be measured in multiple tissues including erythrocytes and liver.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1863957">Feature record</a> | <a href="/medgen?term=%22Decreased%20tissue%20S-adenosylhomocysteine%20hydrolase%20activity%22%5BClinical%20Features%5D%20OR%201863957%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_78084"><div><strong>Abnormality of the dentition</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78084</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.">C0262444</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any abnormality of the teeth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78084">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20the%20dentition%22%5BClinical%20Features%5D%20OR%2078084%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98409"><div><strong>Abnormal facial shape</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98409</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.">C0424503</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal morphology (form) of the face or its components.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98409">Feature record</a> | <a href="/medgen?term=%22Abnormal%20facial%20shape%22%5BClinical%20Features%5D%20OR%2098409%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1641033"><div><strong>Esodeviation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1641033</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.">C4551734</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1641033">Feature record</a> | <a href="/medgen?term=%22Esodeviation%22%5BClinical%20Features%5D%20OR%201641033%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 head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98409" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal facial shape</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_78084" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of the dentition</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1863957" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased tissue S-adenosylhomocysteine hydrolase activity</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57740" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating alanine aminotransferase concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57497" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating aspartate aminotransferase concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_887708" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypermethioninemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_68694" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoalbuminemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1707383" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased circulating creatine kinase MM isoform</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_209232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cardiomyopathy</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1379023" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Decreased hepatic echogenicity</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1641033" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Esodeviation</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_336019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased variability in muscle fiber diameter</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_322809" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Poor head control</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<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">
|
||
<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">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_381392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor delay</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
|
||
<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>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3151058[DISCUI]&test_type=Clinical" ref="ncbi_uid=462408">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462408" target="_blank" href="/omim/180960">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462408" ref="ncbi_uid=462408">V</a></span></span><span class="TLline">Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842381" ref="tree=MeSH" title="MedGen record for Inborn disorder of methionine cycle and sulfur amino acid metabolism">Inborn disorder of methionine cycle and sulfur amino acid metabolism</a></span><ul><li><span class="matched_ds">Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase</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=11805&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32971905">Interplay of Enzyme Therapy and Dietary Management of Murine Homocystinuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Park I,
|
||
Bublil EM,
|
||
Glavin F,
|
||
Majtan T</span><br />
|
||
<span class="medgenPMjournal">Nutrients</span>
|
||
2020 Sep 22;12(9)
|
||
doi: 10.3390/nu12092895.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32971905" target="_blank">32971905</a><a href="/pmc/articles/PMC7551847" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31851615">Analysis of five cases of hypermethioninemia diagnosed by neonatal screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Z,
|
||
Wang Y,
|
||
Ma D,
|
||
Cheng W,
|
||
Sun Y,
|
||
Jiang T</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2020 Jan 28;33(1):47-52.
|
||
doi: 10.1515/jpem-2019-0285.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31851615" target="_blank">31851615</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27671891">Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barić I,
|
||
Staufner C,
|
||
Augoustides-Savvopoulou P,
|
||
Chien YH,
|
||
Dobbelaere D,
|
||
Grünert SC,
|
||
Opladen T,
|
||
Petković Ramadža D,
|
||
Rakić B,
|
||
Wedell A,
|
||
Blom HJ</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2017 Jan;40(1):5-20.
|
||
Epub 2016 Sep 26
|
||
doi: 10.1007/s10545-016-9972-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27671891" target="_blank">27671891</a><a href="/pmc/articles/PMC5203850" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(hypermethioninemia%20with%20deficiency%20of%20s-adenosylhomocysteine%20hydrolase)%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 (11)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/Methionine.pdf" target="_blank">American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated Methionine +/- Elevated Homocysteine, Homocystinuria (Cystathionine beta-synthase deficiency), 2021</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/Methionine-Algorithm.pdf" target="_blank">American College of Medical Genetics and Genomics, Algorithm, Elevated Methionine +/- Elevated Homocysteine, 2021</a></h3>
|
||
</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/35410483">Epigenetic Upregulation of H19 and AMPK Inhibition Concurrently Contribute to S-Adenosylhomocysteine Hydrolase Deficiency-Promoted Atherosclerotic Calcification.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dai X,
|
||
Liu S,
|
||
Cheng L,
|
||
Huang T,
|
||
Guo H,
|
||
Wang D,
|
||
Xia M,
|
||
Ling W,
|
||
Xiao Y</span><br />
|
||
<span class="medgenPMjournal">Circ Res</span>
|
||
2022 May 13;130(10):1565-1582.
|
||
Epub 2022 Apr 12
|
||
doi: 10.1161/CIRCRESAHA.121.320251.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35410483" target="_blank">35410483</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33309011">Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Becker PH,
|
||
Demir Z,
|
||
Mozer Glassberg Y,
|
||
Sevin C,
|
||
Habes D,
|
||
Imbard A,
|
||
Mussini C,
|
||
Rozenfeld Bar Lev M,
|
||
Davit-Spraul A,
|
||
Benoist JF,
|
||
Thérond P,
|
||
Slama A,
|
||
Jacquemin E,
|
||
Gonzales E,
|
||
Gaignard P</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2021 Jan;132(1):38-43.
|
||
Epub 2020 Nov 28
|
||
doi: 10.1016/j.ymgme.2020.11.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33309011" target="_blank">33309011</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31851615">Analysis of five cases of hypermethioninemia diagnosed by neonatal screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Z,
|
||
Wang Y,
|
||
Ma D,
|
||
Cheng W,
|
||
Sun Y,
|
||
Jiang T</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2020 Jan 28;33(1):47-52.
|
||
doi: 10.1515/jpem-2019-0285.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31851615" target="_blank">31851615</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22951388">Methionine adenosyltransferase I/III deficiency: neurological manifestations and relevance of S-adenosylmethionine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Furujo M,
|
||
Kinoshita M,
|
||
Nagao M,
|
||
Kubo T</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2012 Nov;107(3):253-6.
|
||
Epub 2012 Aug 11
|
||
doi: 10.1016/j.ymgme.2012.08.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22951388" target="_blank">22951388</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7573050">Isolated persistent hypermethioninemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mudd SH,
|
||
Levy HL,
|
||
Tangerman A,
|
||
Boujet C,
|
||
Buist N,
|
||
Davidson-Mundt A,
|
||
Hudgins L,
|
||
Oyanagi K,
|
||
Nagao M,
|
||
Wilson WG</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1995 Oct;57(4):882-92.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7573050" target="_blank">7573050</a><a href="/pmc/articles/PMC1801505" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypermethioninemia%20with%20deficiency%20of%20S-adenosylhomocysteine%20hydrolase%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 (24)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33309011">Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Becker PH,
|
||
Demir Z,
|
||
Mozer Glassberg Y,
|
||
Sevin C,
|
||
Habes D,
|
||
Imbard A,
|
||
Mussini C,
|
||
Rozenfeld Bar Lev M,
|
||
Davit-Spraul A,
|
||
Benoist JF,
|
||
Thérond P,
|
||
Slama A,
|
||
Jacquemin E,
|
||
Gonzales E,
|
||
Gaignard P</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2021 Jan;132(1):38-43.
|
||
Epub 2020 Nov 28
|
||
doi: 10.1016/j.ymgme.2020.11.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33309011" target="_blank">33309011</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31851615">Analysis of five cases of hypermethioninemia diagnosed by neonatal screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang Z,
|
||
Wang Y,
|
||
Ma D,
|
||
Cheng W,
|
||
Sun Y,
|
||
Jiang T</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2020 Jan 28;33(1):47-52.
|
||
doi: 10.1515/jpem-2019-0285.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31851615" target="_blank">31851615</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27671891">Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barić I,
|
||
Staufner C,
|
||
Augoustides-Savvopoulou P,
|
||
Chien YH,
|
||
Dobbelaere D,
|
||
Grünert SC,
|
||
Opladen T,
|
||
Petković Ramadža D,
|
||
Rakić B,
|
||
Wedell A,
|
||
Blom HJ</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2017 Jan;40(1):5-20.
|
||
Epub 2016 Sep 26
|
||
doi: 10.1007/s10545-016-9972-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27671891" target="_blank">27671891</a><a href="/pmc/articles/PMC5203850" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21308989">Hypermethioninemias of genetic and non-genetic origin: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mudd SH</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2011 Feb 15;157C(1):3-32.
|
||
Epub 2011 Feb 9
|
||
doi: 10.1002/ajmg.c.30293.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21308989" target="_blank">21308989</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7573050">Isolated persistent hypermethioninemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mudd SH,
|
||
Levy HL,
|
||
Tangerman A,
|
||
Boujet C,
|
||
Buist N,
|
||
Davidson-Mundt A,
|
||
Hudgins L,
|
||
Oyanagi K,
|
||
Nagao M,
|
||
Wilson WG</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1995 Oct;57(4):882-92.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7573050" target="_blank">7573050</a><a href="/pmc/articles/PMC1801505" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypermethioninemia%20with%20deficiency%20of%20S-adenosylhomocysteine%20hydrolase%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 (41)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36376887">Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Imbard A,
|
||
Toumazi A,
|
||
Magréault S,
|
||
Garcia-Segarra N,
|
||
Schlemmer D,
|
||
Kaguelidou F,
|
||
Perronneau I,
|
||
Haignere J,
|
||
de Baulny HO,
|
||
Kuster A,
|
||
Feillet F,
|
||
Alberti C,
|
||
Guilmin-Crépon S,
|
||
Benoist JF,
|
||
Schiff M</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2022 Nov 14;17(1):417.
|
||
doi: 10.1186/s13023-022-02567-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36376887" target="_blank">36376887</a><a href="/pmc/articles/PMC9664596" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32971905">Interplay of Enzyme Therapy and Dietary Management of Murine Homocystinuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Park I,
|
||
Bublil EM,
|
||
Glavin F,
|
||
Majtan T</span><br />
|
||
<span class="medgenPMjournal">Nutrients</span>
|
||
2020 Sep 22;12(9)
|
||
doi: 10.3390/nu12092895.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32971905" target="_blank">32971905</a><a href="/pmc/articles/PMC7551847" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26974671">Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Motzek A,
|
||
Knežević J,
|
||
Switzeny OJ,
|
||
Cooper A,
|
||
Barić I,
|
||
Beluzić R,
|
||
Strauss KA,
|
||
Puffenberger EG,
|
||
Mudd SH,
|
||
Vugrek O,
|
||
Zechner U</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2016;11(3):e0151261.
|
||
Epub 2016 Mar 14
|
||
doi: 10.1371/journal.pone.0151261.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26974671" target="_blank">26974671</a><a href="/pmc/articles/PMC4790936" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22951388">Methionine adenosyltransferase I/III deficiency: neurological manifestations and relevance of S-adenosylmethionine.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Furujo M,
|
||
Kinoshita M,
|
||
Nagao M,
|
||
Kubo T</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2012 Nov;107(3):253-6.
|
||
Epub 2012 Aug 11
|
||
doi: 10.1016/j.ymgme.2012.08.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22951388" target="_blank">22951388</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9437700">Amino acid metabolism in pediatric patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Imura K,
|
||
Okada A</span><br />
|
||
<span class="medgenPMjournal">Nutrition</span>
|
||
1998 Jan;14(1):143-8.
|
||
doi: 10.1016/s0899-9007(97)00230-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9437700" target="_blank">9437700</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypermethioninemia%20with%20deficiency%20of%20S-adenosylhomocysteine%20hydrolase%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 (17)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33309011">Adenosine kinase deficiency: Three new cases and diagnostic value of hypermethioninemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Becker PH,
|
||
Demir Z,
|
||
Mozer Glassberg Y,
|
||
Sevin C,
|
||
Habes D,
|
||
Imbard A,
|
||
Mussini C,
|
||
Rozenfeld Bar Lev M,
|
||
Davit-Spraul A,
|
||
Benoist JF,
|
||
Thérond P,
|
||
Slama A,
|
||
Jacquemin E,
|
||
Gonzales E,
|
||
Gaignard P</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2021 Jan;132(1):38-43.
|
||
Epub 2020 Nov 28
|
||
doi: 10.1016/j.ymgme.2020.11.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33309011" target="_blank">33309011</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31957987">A Turkish patient with novel AHCY variants and presumed diagnosis of S-adenosylhomocysteine hydrolase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bas H,
|
||
Cilingir O,
|
||
Tekin N,
|
||
Saylisoy S,
|
||
Durak Aras B,
|
||
Uzay E,
|
||
Erzurumluoglu Gokalp E,
|
||
Artan S</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2020 Apr;182(4):740-745.
|
||
Epub 2020 Jan 20
|
||
doi: 10.1002/ajmg.a.61489.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31957987" target="_blank">31957987</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26289392">Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chien YH,
|
||
Abdenur JE,
|
||
Baronio F,
|
||
Bannick AA,
|
||
Corrales F,
|
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Couce M,
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Donner MG,
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Ficicioglu C,
|
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Freehauf C,
|
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Frithiof D,
|
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Gotway G,
|
||
Hirabayashi K,
|
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Hofstede F,
|
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Hoganson G,
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Hwu WL,
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James P,
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Kim S,
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Korman SH,
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Lachmann R,
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Levy H,
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Lindner M,
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Lykopoulou L,
|
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Mayatepek E,
|
||
Muntau A,
|
||
Okano Y,
|
||
Raymond K,
|
||
Rubio-Gozalbo E,
|
||
Scholl-Bürgi S,
|
||
Schulze A,
|
||
Singh R,
|
||
Stabler S,
|
||
Stuy M,
|
||
Thomas J,
|
||
Wagner C,
|
||
Wilson WG,
|
||
Wortmann S,
|
||
Yamamoto S,
|
||
Pao M,
|
||
Blom HJ</span><br />
|
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2015 Aug 20;10:99.
|
||
doi: 10.1186/s13023-015-0321-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26289392" target="_blank">26289392</a><a href="/pmc/articles/PMC4545930" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8770875">Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chamberlin ME,
|
||
Ubagai T,
|
||
Mudd SH,
|
||
Wilson WG,
|
||
Leonard JV,
|
||
Chou JY</span><br />
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<span class="medgenPMjournal">J Clin Invest</span>
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1996 Aug 15;98(4):1021-7.
|
||
doi: 10.1172/JCI118862.
|
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<span class="bold">PMID: </span><a href="/pubmed/8770875" target="_blank">8770875</a><a href="/pmc/articles/PMC507518" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7573050">Isolated persistent hypermethioninemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mudd SH,
|
||
Levy HL,
|
||
Tangerman A,
|
||
Boujet C,
|
||
Buist N,
|
||
Davidson-Mundt A,
|
||
Hudgins L,
|
||
Oyanagi K,
|
||
Nagao M,
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||
Wilson WG</span><br />
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<span class="medgenPMjournal">Am J Hum Genet</span>
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1995 Oct;57(4):882-92.
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<span class="bold">PMID: </span><a href="/pubmed/7573050" target="_blank">7573050</a><a href="/pmc/articles/PMC1801505" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypermethioninemia%20with%20deficiency%20of%20S-adenosylhomocysteine%20hydrolase%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 (19)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39511588">Hypermethioninemia due to methionine adenosyltransferase I/III deficiency and brain damage.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ma X,
|
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Lu M,
|
||
Chen Z,
|
||
Zhang H,
|
||
Song J,
|
||
Dong H,
|
||
Jin Y,
|
||
Li M,
|
||
He R,
|
||
Kang L,
|
||
Liu Y,
|
||
Chen Y,
|
||
Zhu Z,
|
||
Sun L,
|
||
Zhang Y,
|
||
Yang Y</span><br />
|
||
<span class="medgenPMjournal">BMC Pediatr</span>
|
||
2024 Nov 7;24(1):713.
|
||
doi: 10.1186/s12887-024-05196-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39511588" target="_blank">39511588</a><a href="/pmc/articles/PMC11542214" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26974671">Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Motzek A,
|
||
Knežević J,
|
||
Switzeny OJ,
|
||
Cooper A,
|
||
Barić I,
|
||
Beluzić R,
|
||
Strauss KA,
|
||
Puffenberger EG,
|
||
Mudd SH,
|
||
Vugrek O,
|
||
Zechner U</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2016;11(3):e0151261.
|
||
Epub 2016 Mar 14
|
||
doi: 10.1371/journal.pone.0151261.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26974671" target="_blank">26974671</a><a href="/pmc/articles/PMC4790936" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26289392">Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chien YH,
|
||
Abdenur JE,
|
||
Baronio F,
|
||
Bannick AA,
|
||
Corrales F,
|
||
Couce M,
|
||
Donner MG,
|
||
Ficicioglu C,
|
||
Freehauf C,
|
||
Frithiof D,
|
||
Gotway G,
|
||
Hirabayashi K,
|
||
Hofstede F,
|
||
Hoganson G,
|
||
Hwu WL,
|
||
James P,
|
||
Kim S,
|
||
Korman SH,
|
||
Lachmann R,
|
||
Levy H,
|
||
Lindner M,
|
||
Lykopoulou L,
|
||
Mayatepek E,
|
||
Muntau A,
|
||
Okano Y,
|
||
Raymond K,
|
||
Rubio-Gozalbo E,
|
||
Scholl-Bürgi S,
|
||
Schulze A,
|
||
Singh R,
|
||
Stabler S,
|
||
Stuy M,
|
||
Thomas J,
|
||
Wagner C,
|
||
Wilson WG,
|
||
Wortmann S,
|
||
Yamamoto S,
|
||
Pao M,
|
||
Blom HJ</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2015 Aug 20;10:99.
|
||
doi: 10.1186/s13023-015-0321-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26289392" target="_blank">26289392</a><a href="/pmc/articles/PMC4545930" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8770875">Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chamberlin ME,
|
||
Ubagai T,
|
||
Mudd SH,
|
||
Wilson WG,
|
||
Leonard JV,
|
||
Chou JY</span><br />
|
||
<span class="medgenPMjournal">J Clin Invest</span>
|
||
1996 Aug 15;98(4):1021-7.
|
||
doi: 10.1172/JCI118862.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8770875" target="_blank">8770875</a><a href="/pmc/articles/PMC507518" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7573050">Isolated persistent hypermethioninemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mudd SH,
|
||
Levy HL,
|
||
Tangerman A,
|
||
Boujet C,
|
||
Buist N,
|
||
Davidson-Mundt A,
|
||
Hudgins L,
|
||
Oyanagi K,
|
||
Nagao M,
|
||
Wilson WG</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
1995 Oct;57(4):882-92.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7573050" target="_blank">7573050</a><a href="/pmc/articles/PMC1801505" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hypermethioninemia%20with%20deficiency%20of%20S-adenosylhomocysteine%20hydrolase%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 (19)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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|
||
<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3151058%5bDISCUI%5d&filter=method%3A1%5F1" target="_blank">Analyte (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C3151058%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (20)</a></li>
|
||
<li><a href="/gtr/tests?term=C3151058%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C3151058%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C3151058%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (25)</a></li>
|
||
<li><a href="/gtr/tests?term=C3151058%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (7)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3151058%5bDISCUI%5d" target="_blank">See all (29)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=613752" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=88618" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Hypermethioninemia%20with%20deficiency%20of%20S-adenosylhomocysteine%20hydrolase" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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</div>
|
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|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(hypermethioninemia%20with%20deficiency%20of%20s-adenosylhomocysteine%20hydrolase)%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Hypermethioninemia%20with%20deficiency%20of%20S-adenosylhomocysteine%20hydrolase%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/Methionine.pdf">ACMG ACT, 2021</a><div>American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated Methionine +/- Elevated Homocysteine, Homocystinuria (Cystathionine beta-synthase deficiency), 2021</div></li><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/Methionine-Algorithm.pdf">ACMG Algorithm, 2021</a><div>American College of Medical Genetics and Genomics, Algorithm, Elevated Methionine +/- Elevated Homocysteine, 2021</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<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=180960" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=191[geneid]" target="_blank">View AHCY variations in ClinVar</a></li><li><a href="/nuccore/255522814" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=613752" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Hypermethioninemia+with+s-adenosylhomocysteine+hydrolase+deficiency/8595" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/hypermethioninemia_with_s_adenosylhomocysteine_hydrolase_deficiency" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Hypermethioninemia%20with%20deficiency%20of%20S-adenosylhomocysteine%20hydrolase" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/hypermethioninemia" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/13177/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
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<h3>Reviews</h3>
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