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<!--
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||
UID=1527
|
||
ConceptID=C0002888
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Megaloblastic anemia</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1527</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.">C0002888</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>Anemia, Megaloblastic; Anemias, Megaloblastic; Megaloblastic Anemia; Megaloblastic Anemias</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Megaloblastic anemia (53165003)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0001889">HP:0001889</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0001700" target="_blank">MONDO:0001700</a></td></tr>
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts). [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Megaloblastic anemia</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/163092" ref="tree=MeSH" title="MedGen record for Abnormality of blood and blood-forming tissues">Abnormality of blood and blood-forming tissues</a></span><ul><li><span class="TLline"><a href="/medgen/488883" ref="tree=MeSH" title="MedGen record for Abnormal erythrocyte morphology">Abnormal erythrocyte morphology</a></span><ul><li><span class="TLline"><a href="/medgen/1526" ref="tree=MeSH" title="MedGen record for Anemia">Anemia</a></span><ul><li><span class="TLline"><a href="/medgen/1920" ref="tree=MeSH" title="MedGen record for Macrocytic anemia">Macrocytic anemia</a></span><ul><li><span class="matched_ds">Megaloblastic anemia</span><ul><li><span class="TLline"><a href="/medgen/870827" ref="tree=MeSH" title="MedGen record for Folate-unresponsive megaloblastic anemia">Folate-unresponsive megaloblastic anemia</a></span></li><li><span class="TLline"><a href="/medgen/1640347" ref="tree=MeSH" title="MedGen record for Imerslund-Grasbeck syndrome">Imerslund-Grasbeck syndrome</a></span></li><li><span class="TLline"><a href="/medgen/440842" ref="tree=MeSH" title="MedGen record for Megaloblastic anemia, folate-responsive">Megaloblastic anemia, folate-responsive</a></span></li><li><span class="TLline"><a href="/medgen/1531" ref="tree=MeSH" title="MedGen record for Pernicious anemia">Pernicious anemia</a></span></li><li><span class="TLline"><a href="/medgen/867366" ref="tree=MeSH" title="MedGen record for Pyrimidine-responsive megaloblastic anemia">Pyrimidine-responsive megaloblastic anemia</a></span></li><li><span class="TLline"><a href="/medgen/488839" ref="tree=MeSH" title="MedGen record for Thiamine-responsive megaloblastic anemia">Thiamine-responsive megaloblastic anemia</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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||
</div>
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||
<div class="portlet mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_1531"><div><strong>Pernicious anemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1531</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.">C0002892</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Megaloblastic anemia caused by vitamin B-12 deficiency due to impaired absorption. The impaired absorption of vitamin B-12 is secondary to atrophic gastritis and loss of gastric parietal cells.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1531">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_9721"><div><strong>Lesch-Nyhan syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9721</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.">C0023374</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">HPRT1 disorders, caused by deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGprt), are typically associated with clinical evidence for overproduction of uric acid (hyperuricemia, nephrolithiasis, and/or gouty arthritis) and varying degrees of neurologic and/or behavioral problems. Historically, three phenotypes were identified in the spectrum of HPRT1 disorders: Lesch-Nyhan disease (LND) at the most severe end with motor dysfunction resembling severe cerebral palsy, intellectual disability, and self-injurious behavior; HPRT1-related neurologic dysfunction (HND) in the intermediate range with similar but fewer severe neurologic findings than LND and no self-injurious behavior; and HPRT1-related hyperuricemia (HRH) at the mild end without overt neurologic deficits. It is now recognized that these neurobehavioral phenotypes cluster along a continuum from severe to mild.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/9721">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_82823"><div><strong>Glutamate formiminotransferase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82823</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.">C0268609</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Glutamate formiminotransferase deficiency is an autosomal recessive disorder and the second most common inborn error of folate metabolism. Features of a severe phenotype include elevated levels of formiminoglutamate (FIGLU) in the urine in response to histidine administration, megaloblastic anemia, and mental retardation. Features of a mild phenotype include high urinary excretion of FIGLU in the absence of histidine administration, mild developmental delay, and no hematologic abnormalities (summary by Hilton et al., 2003).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82823">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_235598"><div><strong>Hereditary intrinsic factor deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>235598</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.">C1394891</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intrinsic factor deficiency (IFD), or congenital pernicious anemia, is a rare disorder characterized by the lack of gastric intrinsic factor in the presence of normal acid secretion and mucosal cytology and the absence of GIF antibodies that are found in the acquired form of pernicious anemia (170900). See also pernicious anemia due to defect in the receptor for vitamin B12/intrinsic factor (261100).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/235598">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_325511"><div><strong>Wolfram syndrome, mitochondrial form</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>325511</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.">C1838782</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/325511">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341253"><div><strong>Methylmalonic aciduria and homocystinuria type cblD</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341253</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.">C1848552</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Disorders of intracellular cobalamin metabolism have a variable phenotype and age of onset that are influenced by the severity and location within the pathway of the defect. The prototype and best understood phenotype is cblC; it is also the most common of these disorders. The age of initial presentation of cblC spans a wide range: In utero with fetal presentation of nonimmune hydrops, cardiomyopathy, and intrauterine growth restriction. Newborns, who can have microcephaly, poor feeding, and encephalopathy. Infants, who can have poor feeding and slow growth, neurologic abnormality, and, rarely, hemolytic uremic syndrome (HUS). Toddlers, who can have poor growth, progressive microcephaly, cytopenias (including megaloblastic anemia), global developmental delay, encephalopathy, and neurologic signs such as hypotonia and seizures. Adolescents and adults, who can have neuropsychiatric symptoms, progressive cognitive decline, thromboembolic complications, and/or subacute combined degeneration of the spinal cord.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341253">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_341256"><div><strong>Cobalamin C disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341256</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.">C1848561</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Disorders of intracellular cobalamin metabolism have a variable phenotype and age of onset that are influenced by the severity and location within the pathway of the defect. The prototype and best understood phenotype is cblC; it is also the most common of these disorders. The age of initial presentation of cblC spans a wide range: In utero with fetal presentation of nonimmune hydrops, cardiomyopathy, and intrauterine growth restriction. Newborns, who can have microcephaly, poor feeding, and encephalopathy. Infants, who can have poor feeding and slow growth, neurologic abnormality, and, rarely, hemolytic uremic syndrome (HUS). Toddlers, who can have poor growth, progressive microcephaly, cytopenias (including megaloblastic anemia), global developmental delay, encephalopathy, and neurologic signs such as hypotonia and seizures. Adolescents and adults, who can have neuropsychiatric symptoms, progressive cognitive decline, thromboembolic complications, and/or subacute combined degeneration of the spinal cord.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/341256">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_336373"><div><strong>Methylmalonic aciduria and homocystinuria type cblF</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336373</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.">C1848578</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Disorders of intracellular cobalamin metabolism have a variable phenotype and age of onset that are influenced by the severity and location within the pathway of the defect. The prototype and best understood phenotype is cblC; it is also the most common of these disorders. The age of initial presentation of cblC spans a wide range: In utero with fetal presentation of nonimmune hydrops, cardiomyopathy, and intrauterine growth restriction. Newborns, who can have microcephaly, poor feeding, and encephalopathy. Infants, who can have poor feeding and slow growth, neurologic abnormality, and, rarely, hemolytic uremic syndrome (HUS). Toddlers, who can have poor growth, progressive microcephaly, cytopenias (including megaloblastic anemia), global developmental delay, encephalopathy, and neurologic signs such as hypotonia and seizures. Adolescents and adults, who can have neuropsychiatric symptoms, progressive cognitive decline, thromboembolic complications, and/or subacute combined degeneration of the spinal cord.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/336373">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_344426"><div><strong>Methylcobalamin deficiency type cblG</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344426</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.">C1855128</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Disorders of intracellular cobalamin metabolism have a variable phenotype and age of onset that are influenced by the severity and location within the pathway of the defect. The prototype and best understood phenotype is cblC; it is also the most common of these disorders. The age of initial presentation of cblC spans a wide range: In utero with fetal presentation of nonimmune hydrops, cardiomyopathy, and intrauterine growth restriction. Newborns, who can have microcephaly, poor feeding, and encephalopathy. Infants, who can have poor feeding and slow growth, neurologic abnormality, and, rarely, hemolytic uremic syndrome (HUS). Toddlers, who can have poor growth, progressive microcephaly, cytopenias (including megaloblastic anemia), global developmental delay, encephalopathy, and neurologic signs such as hypotonia and seizures. Adolescents and adults, who can have neuropsychiatric symptoms, progressive cognitive decline, thromboembolic complications, and/or subacute combined degeneration of the spinal cord.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344426">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340942"><div><strong>Intrinsic factor and r binder, combined congenital deficiency of</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340942</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.">C1855721</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340942">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_344640"><div><strong>Methylcobalamin deficiency type cblE</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344640</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.">C1856057</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Disorders of intracellular cobalamin metabolism have a variable phenotype and age of onset that are influenced by the severity and location within the pathway of the defect. The prototype and best understood phenotype is cblC; it is also the most common of these disorders. The age of initial presentation of cblC spans a wide range: In utero with fetal presentation of nonimmune hydrops, cardiomyopathy, and intrauterine growth restriction. Newborns, who can have microcephaly, poor feeding, and encephalopathy. Infants, who can have poor feeding and slow growth, neurologic abnormality, and, rarely, hemolytic uremic syndrome (HUS). Toddlers, who can have poor growth, progressive microcephaly, cytopenias (including megaloblastic anemia), global developmental delay, encephalopathy, and neurologic signs such as hypotonia and seizures. Adolescents and adults, who can have neuropsychiatric symptoms, progressive cognitive decline, thromboembolic complications, and/or subacute combined degeneration of the spinal cord.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344640">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_400935"><div><strong>PHGDH deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400935</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.">C1866174</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Serine deficiency disorders include a spectrum of disease ranging from lethal prenatal-onset Neu-Laxova syndrome to serine deficiency with infantile, juvenile, or adult onset. Neu-Laxova syndrome is characterized by severe intrauterine growth deficiency, microcephaly, congenital bilateral cataracts, characteristic dysmorphic features, limb anomalies, and collodion-like ichthyosis. Infants are typically stillborn or die in early infancy. Infantile-onset serine deficiency is characterized by seizures, microcephaly, developmental delay, intellectual disability, and spastic quadriplegia. Individuals that present with juvenile-onset serine deficiency have seizures and many develop spastic quadriplegia. Adult-onset serine deficiency is characterized by progressive axonal polyneuropathy with ataxia and possible cognitive impairment.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/400935">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462555"><div><strong>Constitutional megaloblastic anemia with severe neurologic disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462555</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.">C3151205</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dihydrofolate reductase deficiency is an autosomal recessive metabolic disorder characterized by the hematologic findings of megaloblastic anemia and variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy (Banka et al., 2011) to childhood absence epilepsy with learning difficulties to lack of symptoms (Cario et al., 2011). Treatment with folinic acid can ameliorate some of the symptoms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462555">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_865256"><div><strong>Imerslund-Grasbeck syndrome type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>865256</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.">C4016819</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">3-Methylglutaconic aciduria type I (MGCA1) is a rare autosomal recessive disorder of leucine catabolism. The metabolic landmark is urinary excretion of 3-methylglutaconic acid (3-MGA) and its derivatives 3-methylglutaric acid (3-MG) and 3-hydroxyisovaleric acid (3-HIVA). Two main presentations have been described: one with onset in childhood associated with the nonspecific finding of psychomotor retardation, and the other with onset in adulthood of a progressive neurodegenerative disorder characterized by ataxia, spasticity, and sometimes dementia; these patients develop white matter lesions in the brain. However, some asymptomatic pediatric patients have been identified by newborn screening and show no developmental abnormalities when reexamined later in childhood (summary by Wortmann et al., 2010). Genetic Heterogeneity and Classification of Methylglutaconic Aciduria Methylglutaconic aciduria is a clinically and genetically heterogeneous disorder. Type II MGCA (MGCA2), also known as Barth syndrome (BTHS; 302060), is caused by mutation in the tafazzin gene (TAZ; 300394) on chromosome Xq28. It is characterized by mitochondrial cardiomyopathy, short stature, skeletal myopathy, and recurrent infections; cognitive development is normal. Type III MGCA (MGCA3; 258501), caused by mutation in the OPA3 gene (606580) on chromosome 19q13, involves optic atrophy, movement disorder, and spastic paraplegia. In types II and III, the elevations of 3-methylglutaconate and 3-methylglutarate in urine are modest. Type IV MGCA (MGCA4; 250951) represents an unclassified group of patients who have severe psychomotor retardation and cerebellar dysgenesis. Type V MGCA (MGCA5; 610198), caused by mutation in the DNAJC19 gene (608977) on chromosome 3q26, is characterized by early-onset dilated cardiomyopathy with conduction defects, nonprogressive cerebellar ataxia, testicular dysgenesis, and growth failure in addition to 3-methylglutaconic aciduria (Chitayat et al., 1992; Davey et al., 2006). Type VI MGCA (MGCA6; 614739), caused by mutation in the SERAC1 gene (614725) on chromosome 6q25, includes deafness, encephalopathy, and a Leigh-like syndrome. Type VII MGCA (MGCA7B, 616271 and MGCA7A, 619835), caused by mutation in the CLPB gene (616254) on chromosome 11q13, includes cataracts, neurologic involvement, and neutropenia. Type VIII MGCA (MGCA8; 617248) is caused by mutation in the HTRA2 gene (606441) on chromosome 2p13. Type IX MGCA (MGCA9; 617698) is caused by mutation in the TIMM50 gene (607381) on chromosome 19q13. Eriguchi et al. (2006) noted that type I MGCA is very rare, with only 13 patients reported in the literature as of 2003. Wortmann et al. (2013) proposed a pathomechanism-based classification for 'inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature.'</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/865256">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_865385"><div><strong>Imerslund-Grasbeck syndrome type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>865385</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.">C4016948</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Imerslund-Grasbeck syndrome-2 (IGS2) is an autosomal recessive disorder characterized by onset of megaloblastic anemia associated with decreased serum vitamin B12 (cobalamin, Cbl) in infancy or early childhood. Low molecular weight (LMW) proteinuria is frequently present, but usually occurs later and is usually mild or subclinical. Patients often present with vague symptoms, including failure to thrive, loss of appetite, fatigue, lethargy, and/or recurrent infections. Treatment with vitamin B12 results in sustained clinical improvement of the anemia. The proteinuria is nonprogressive, and affected individuals do not have deterioration of kidney function; correct diagnosis is important to prevent unnecessary treatment. The disorder results from a combination of vitamin B12 deficiency due to selective malabsorption of the vitamin, and impaired reabsorption of LMW proteins in the proximal renal tubule. These defects are caused by disruption of the AMN/CUBN (602997) complex that forms the 'cubam' receptor responsible for intestinal uptake of B12/GIF (CBLIF; 609342). In the kidney, AMN/CUBN interacts with the endocytic receptor megalin (LRP2; 600073), which is important for the reabsorption of plasma proteins (summary by Grasbeck, 2006, De Filippo et al., 2013, and Storm et al., 2013). For a discussion of genetic heterogeneity of Imerslund-Grasbeck syndrome, see 261100.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/865385">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1615364"><div><strong>Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1615364</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.">C4540434</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia is an inborn error of folate metabolism due to deficiency of methylenetetrahydrofolate dehydrogenase-1. Manifestations may include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild mental retardation, lymphopenia involving all subsets, and low T-cell receptor excision circles. Folinic acid supplementation is an effective treatment (summary by Ramakrishnan et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1615364">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1641635"><div><strong>Wolfram syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1641635</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.">C4551693</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">WFS1 spectrum disorder (WFS1-SD) comprises classic WFS1 spectrum disorder and nonclassic WFS1 spectrum disorder. Classic WFS1-SD, a progressive neurodegenerative disorder, is characterized by onset of diabetes mellitus and optic atrophy before age 16 years. Additional complications may include one or more of the following: variable hearing impairment / deafness, diabetes insipidus, neurologic abnormalities, neurogenic bladder, and psychiatric abnormalities. Nonclassic WFS1-SD is less common than classic WFS1-SD. Phenotypes that appear to be milder than classic WFS1-SD include: optic atrophy and hearing impairment; neonatal diabetes, profound congenital deafness, and cataracts; isolated diabetes mellitus; isolated congenital cataracts; and isolated congenital, slowly progressive, and low-frequency (<2000 Hz) sensorineural hearing loss.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1641635">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1848890"><div><strong>Immunodeficiency 114, folate-responsive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1848890</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.">C5882719</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Folate-responsive immunodeficiency-114 (IMD114) is an autosomal recessive immunologic disorder characterized by the onset of oral ulcers and recurrent skin and respiratory infections in early infancy. Affected individuals have lip fissures, skin sores and abscesses, genital dermatitis, chronic diarrhea, and poor overall growth. Laboratory studies show megaloblastic anemia, thrombocytopenia, and lymphopenia with decreased Ig levels. Some individuals have global developmental delay, often with brain imaging abnormalities. Treatment with folic acid supplementation results in significant clinical improvement of the hematologic and immunologic abnormalities, although neurologic abnormalities, if already present, do not respond to treatment. Early intervention and treatment with folic acid supplementation may prevent or delay neurologic deficits in affected infants (Gok et al., 2023; Shiraishi et al., 2023).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1848890">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341256" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cobalamin C disease</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1615364" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462555" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Constitutional megaloblastic anemia with severe neurologic disease</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82823" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glutamate formiminotransferase deficiency</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_235598" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary intrinsic factor deficiency</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (18)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_865256" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Imerslund-Grasbeck syndrome type 1</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_865385" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Imerslund-Grasbeck syndrome type 2</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1848890" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Immunodeficiency 114, folate-responsive</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340942" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intrinsic factor and r binder, combined congenital deficiency of</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_9721" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lesch-Nyhan syndrome</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344640" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Methylcobalamin deficiency type cblE</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344426" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Methylcobalamin deficiency type cblG</a></div>
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||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341253" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Methylmalonic aciduria and homocystinuria type cblD</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336373" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Methylmalonic aciduria and homocystinuria type cblF</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1531" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pernicious anemia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400935" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">PHGDH deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1641635" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wolfram syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_325511" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Wolfram syndrome, mitochondrial form</a></div></span></div></div>
|
||
</div>
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||
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||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
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||
<div class="nl"><a target="_blank" href="/pubmed/28925645">Vitamin B12 Deficiency: Recognition and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Langan RC,
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||
Goodbred AJ</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2017 Sep 15;96(6):384-389.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28925645" target="_blank">28925645</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3301655">Megaloblastic anemia--etiology and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saraya AK,
|
||
Gupta MK</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
1987 May-Jun;54(3):343-53.
|
||
doi: 10.1007/BF02748918.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3301655" target="_blank">3301655</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4912934">Differential diagnosis and management of the patient with megaloblastic anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sullivan LW</span><br />
|
||
<span class="medgenPMjournal">Am J Med</span>
|
||
1970 May;48(5):609-17.
|
||
doi: 10.1016/0002-9343(70)90011-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4912934" target="_blank">4912934</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22megaloblastic%20anemia%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 (23)</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/35337628">Vitamin B12 deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Green R,
|
||
Miller JW</span><br />
|
||
<span class="medgenPMjournal">Vitam Horm</span>
|
||
2022;119:405-439.
|
||
Epub 2022 Mar 11
|
||
doi: 10.1016/bs.vh.2022.02.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35337628" target="_blank">35337628</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32868164">Folic acid versus 5- methyl tetrahydrofolate supplementation in pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferrazzi E,
|
||
Tiso G,
|
||
Di Martino D</span><br />
|
||
<span class="medgenPMjournal">Eur J Obstet Gynecol Reprod Biol</span>
|
||
2020 Oct;253:312-319.
|
||
Epub 2020 Jun 13
|
||
doi: 10.1016/j.ejogrb.2020.06.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32868164" target="_blank">32868164</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29532755">Homocysteine and Hyperhomocysteinaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zaric BL,
|
||
Obradovic M,
|
||
Bajic V,
|
||
Haidara MA,
|
||
Jovanovic M,
|
||
Isenovic ER</span><br />
|
||
<span class="medgenPMjournal">Curr Med Chem</span>
|
||
2019;26(16):2948-2961.
|
||
doi: 10.2174/0929867325666180313105949.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29532755" target="_blank">29532755</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28925645">Vitamin B12 Deficiency: Recognition and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Langan RC,
|
||
Goodbred AJ</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2017 Sep 15;96(6):384-389.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28925645" target="_blank">28925645</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26496821">Recreational nitrous oxide use: Prevalence and risks.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Amsterdam J,
|
||
Nabben T,
|
||
van den Brink W</span><br />
|
||
<span class="medgenPMjournal">Regul Toxicol Pharmacol</span>
|
||
2015 Dec;73(3):790-6.
|
||
Epub 2015 Oct 22
|
||
doi: 10.1016/j.yrtph.2015.10.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26496821" target="_blank">26496821</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Megaloblastic%20anemia%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 (303)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32127439">Severe megaloblastic anemia: Vitamin deficiency and other causes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Socha DS,
|
||
DeSouza SI,
|
||
Flagg A,
|
||
Sekeres M,
|
||
Rogers HJ</span><br />
|
||
<span class="medgenPMjournal">Cleve Clin J Med</span>
|
||
2020 Mar;87(3):153-164.
|
||
doi: 10.3949/ccjm.87a.19072.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32127439" target="_blank">32127439</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29555368">Approach to pancytopenia: Diagnostic algorithm for clinical hematologists.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gnanaraj J,
|
||
Parnes A,
|
||
Francis CW,
|
||
Go RS,
|
||
Takemoto CM,
|
||
Hashmi SK</span><br />
|
||
<span class="medgenPMjournal">Blood Rev</span>
|
||
2018 Sep;32(5):361-367.
|
||
Epub 2018 Mar 5
|
||
doi: 10.1016/j.blre.2018.03.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29555368" target="_blank">29555368</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28925645">Vitamin B12 Deficiency: Recognition and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Langan RC,
|
||
Goodbred AJ</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2017 Sep 15;96(6):384-389.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28925645" target="_blank">28925645</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28189172">Megaloblastic Anemias: Nutritional and Other Causes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Green R,
|
||
Datta Mitra A</span><br />
|
||
<span class="medgenPMjournal">Med Clin North Am</span>
|
||
2017 Mar;101(2):297-317.
|
||
Epub 2016 Dec 14
|
||
doi: 10.1016/j.mcna.2016.09.013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28189172" target="_blank">28189172</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10818399">Anemia in pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sifakis S,
|
||
Pharmakides G</span><br />
|
||
<span class="medgenPMjournal">Ann N Y Acad Sci</span>
|
||
2000;900:125-36.
|
||
doi: 10.1111/j.1749-6632.2000.tb06223.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10818399" target="_blank">10818399</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Megaloblastic%20anemia%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 (597)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38759983">Thiamine-responsive megaloblastic anaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Veetil VM,
|
||
Pachat D,
|
||
Nikitha K,
|
||
Kutty JM</span><br />
|
||
<span class="medgenPMjournal">Natl Med J India</span>
|
||
2023 Sep-Oct;36(5):314-315.
|
||
doi: 10.25259/NMJI_20_21.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38759983" target="_blank">38759983</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32127439">Severe megaloblastic anemia: Vitamin deficiency and other causes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Socha DS,
|
||
DeSouza SI,
|
||
Flagg A,
|
||
Sekeres M,
|
||
Rogers HJ</span><br />
|
||
<span class="medgenPMjournal">Cleve Clin J Med</span>
|
||
2020 Mar;87(3):153-164.
|
||
doi: 10.3949/ccjm.87a.19072.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32127439" target="_blank">32127439</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28925645">Vitamin B12 Deficiency: Recognition and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Langan RC,
|
||
Goodbred AJ</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2017 Sep 15;96(6):384-389.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28925645" target="_blank">28925645</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26496821">Recreational nitrous oxide use: Prevalence and risks.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Amsterdam J,
|
||
Nabben T,
|
||
van den Brink W</span><br />
|
||
<span class="medgenPMjournal">Regul Toxicol Pharmacol</span>
|
||
2015 Dec;73(3):790-6.
|
||
Epub 2015 Oct 22
|
||
doi: 10.1016/j.yrtph.2015.10.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26496821" target="_blank">26496821</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19202968">Evaluation of macrocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaferle J,
|
||
Strzoda CE</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2009 Feb 1;79(3):203-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19202968" target="_blank">19202968</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Megaloblastic%20anemia%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 (587)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35337628">Vitamin B12 deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Green R,
|
||
Miller JW</span><br />
|
||
<span class="medgenPMjournal">Vitam Horm</span>
|
||
2022;119:405-439.
|
||
Epub 2022 Mar 11
|
||
doi: 10.1016/bs.vh.2022.02.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35337628" target="_blank">35337628</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28432734">Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Astuti D,
|
||
Sabir A,
|
||
Fulton P,
|
||
Zatyka M,
|
||
Williams D,
|
||
Hardy C,
|
||
Milan G,
|
||
Favaretto F,
|
||
Yu-Wai-Man P,
|
||
Rohayem J,
|
||
López de Heredia M,
|
||
Hershey T,
|
||
Tranebjaerg L,
|
||
Chen JH,
|
||
Chaussenot A,
|
||
Nunes V,
|
||
Marshall B,
|
||
McAfferty S,
|
||
Tillmann V,
|
||
Maffei P,
|
||
Paquis-Flucklinger V,
|
||
Geberhiwot T,
|
||
Mlynarski W,
|
||
Parkinson K,
|
||
Picard V,
|
||
Bueno GE,
|
||
Dias R,
|
||
Arnold A,
|
||
Richens C,
|
||
Paisey R,
|
||
Urano F,
|
||
Semple R,
|
||
Sinnott R,
|
||
Barrett TG</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2017 Jul;38(7):764-777.
|
||
Epub 2017 Jun 1
|
||
doi: 10.1002/humu.23233.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28432734" target="_blank">28432734</a><a href="/pmc/articles/PMC5535005" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19202968">Evaluation of macrocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaferle J,
|
||
Strzoda CE</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2009 Feb 1;79(3):203-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19202968" target="_blank">19202968</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1212438">Hypocholesterolaemia and anaemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Westerman MP</span><br />
|
||
<span class="medgenPMjournal">Br J Haematol</span>
|
||
1975 Sep;31(1):87-94.
|
||
doi: 10.1111/j.1365-2141.1975.tb00835.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1212438" target="_blank">1212438</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14168993">MEGALOBLASTIC ANEMIA IN PREGNANCY AND THE PUERPERIUM.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">FRASER JL,
|
||
WATT HJ</span><br />
|
||
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
|
||
1964 Jun 15;89:532-4.
|
||
doi: 10.1016/0002-9378(64)90559-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14168993" target="_blank">14168993</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Megaloblastic%20anemia%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 (158)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37299560">Clinical Pathobiochemistry of Vitamin B(12) Deficiency: Improving Our Understanding by Exploring Novel Mechanisms with a Focus on Diabetic Neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schleicher E,
|
||
Didangelos T,
|
||
Kotzakioulafi E,
|
||
Cegan A,
|
||
Peter A,
|
||
Kantartzis K</span><br />
|
||
<span class="medgenPMjournal">Nutrients</span>
|
||
2023 Jun 1;15(11)
|
||
doi: 10.3390/nu15112597.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37299560" target="_blank">37299560</a><a href="/pmc/articles/PMC10255445" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35337628">Vitamin B12 deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Green R,
|
||
Miller JW</span><br />
|
||
<span class="medgenPMjournal">Vitam Horm</span>
|
||
2022;119:405-439.
|
||
Epub 2022 Mar 11
|
||
doi: 10.1016/bs.vh.2022.02.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35337628" target="_blank">35337628</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28432734">Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Astuti D,
|
||
Sabir A,
|
||
Fulton P,
|
||
Zatyka M,
|
||
Williams D,
|
||
Hardy C,
|
||
Milan G,
|
||
Favaretto F,
|
||
Yu-Wai-Man P,
|
||
Rohayem J,
|
||
López de Heredia M,
|
||
Hershey T,
|
||
Tranebjaerg L,
|
||
Chen JH,
|
||
Chaussenot A,
|
||
Nunes V,
|
||
Marshall B,
|
||
McAfferty S,
|
||
Tillmann V,
|
||
Maffei P,
|
||
Paquis-Flucklinger V,
|
||
Geberhiwot T,
|
||
Mlynarski W,
|
||
Parkinson K,
|
||
Picard V,
|
||
Bueno GE,
|
||
Dias R,
|
||
Arnold A,
|
||
Richens C,
|
||
Paisey R,
|
||
Urano F,
|
||
Semple R,
|
||
Sinnott R,
|
||
Barrett TG</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2017 Jul;38(7):764-777.
|
||
Epub 2017 Jun 1
|
||
doi: 10.1002/humu.23233.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28432734" target="_blank">28432734</a><a href="/pmc/articles/PMC5535005" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19202968">Evaluation of macrocytosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaferle J,
|
||
Strzoda CE</span><br />
|
||
<span class="medgenPMjournal">Am Fam Physician</span>
|
||
2009 Feb 1;79(3):203-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19202968" target="_blank">19202968</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6146753">Methylation and mood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reynolds EH,
|
||
Carney MW,
|
||
Toone BK</span><br />
|
||
<span class="medgenPMjournal">Lancet</span>
|
||
1984 Jul 28;2(8396):196-8.
|
||
doi: 10.1016/s0140-6736(84)90482-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6146753" target="_blank">6146753</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Megaloblastic%20anemia%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 (203)</a></div></div>
|
||
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|
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|
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<div class="portlet mgSection" id="ID_104">
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|
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<div class="nl"><a target="_blank" href="/pubmed/37309846">Folic acid - importance for human health and its role in COVID-19 therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kurowska K,
|
||
Kobylińska M,
|
||
Antosik K</span><br />
|
||
<span class="medgenPMjournal">Rocz Panstw Zakl Hig</span>
|
||
2023;74(2):131-141.
|
||
doi: 10.32394/rpzh.2023.0252.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37309846" target="_blank">37309846</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35759070">Thromboembolic complications of recreational nitrous oxide (ab)use: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Oulkadi S,
|
||
Peters B,
|
||
Vliegen AS</span><br />
|
||
<span class="medgenPMjournal">J Thromb Thrombolysis</span>
|
||
2022 Nov;54(4):686-695.
|
||
Epub 2022 Jun 27
|
||
doi: 10.1007/s11239-022-02673-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35759070" target="_blank">35759070</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30239016">Global folate status in women of reproductive age: a systematic review with emphasis on methodological issues.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rogers LM,
|
||
Cordero AM,
|
||
Pfeiffer CM,
|
||
Hausman DB,
|
||
Tsang BL,
|
||
De-Regil LM,
|
||
Rosenthal J,
|
||
Razzaghi H,
|
||
Wong EC,
|
||
Weakland AP,
|
||
Bailey LB</span><br />
|
||
<span class="medgenPMjournal">Ann N Y Acad Sci</span>
|
||
2018 Nov;1431(1):35-57.
|
||
Epub 2018 Sep 21
|
||
doi: 10.1111/nyas.13963.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30239016" target="_blank">30239016</a><a href="/pmc/articles/PMC6282622" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Megaloblastic%20anemia%22%20AND%20systematic%5Bsb%5D%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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|
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|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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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><li><a href="https://clinicaltrials.gov/search?cond=Megaloblastic%20anemia" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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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=(%22megaloblastic%20anemia%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">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(%22Megaloblastic%20anemia%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></div>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=1527" ref="log$=recordlinks">ClinVar</a>
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