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<!--
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UID=156005
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ConceptID=C0752109
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Brain Diseases, Metabolic, Inborn</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>156005</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.">C0752109</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>Brain Syndrome, Metabolic, Inborn; Encephalopathies, Metabolic, Inborn; Inborn Errors of Metabolism, Brain; Inborn Metabolic Brain Diseases; Inborn Metabolic Brain Disorders; Inborn Metabolic Disorders, Brain; Metabolic Brain Diseases, Inborn; Metabolic Brain Syndrome, Inborn; Metabolic Diseases, Inborn, Brain</td></tr>
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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">Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero. [from <a title="Medical Subject Headings" href="http://www.nlm.nih.gov/pubs/factsheets/mesh.html" class="defSource" target="_blank">MeSH</a>]</div>
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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="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Brain Diseases, Metabolic, Inborn</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/14319" ref="tree=MeSH" title="MedGen record for Congenital, Hereditary, and Neonatal Diseases and Abnormalities">Congenital, Hereditary, and Neonatal Diseases and Abnormalities</a></span><ul><li><span class="TLline"><a href="/medgen/181981" ref="tree=MeSH" title="MedGen record for Inborn genetic diseases">Inborn genetic diseases</a></span><ul><li><span class="TLline"><a href="/medgen/6323" ref="tree=MeSH" title="MedGen record for Inborn errors of metabolism">Inborn errors of metabolism</a></span><ul><li><span class="matched_ds">Brain Diseases, Metabolic, Inborn</span><ul><li><span class="TLline"><a href="/medgen/57667" ref="tree=MeSH" title="MedGen record for Adrenoleukodystrophy">Adrenoleukodystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/315918" ref="tree=MeSH" title="MedGen record for Adrenomyeloneuropathy">Adrenomyeloneuropathy</a></span></li><li><span class="TLline"><a href="/medgen/1641046" ref="tree=MeSH" title="MedGen record for Cerebral Adrenoleukodystrophy">Cerebral Adrenoleukodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1708324" ref="tree=MeSH" title="MedGen record for X-linked cerebral adrenoleukodystrophy">X-linked cerebral adrenoleukodystrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/87453" ref="tree=MeSH" title="MedGen record for Deficiency of mevalonate kinase">Deficiency of mevalonate kinase</a></span><ul><li><span class="TLline"><a href="/medgen/140768" ref="tree=MeSH" title="MedGen record for Hyperimmunoglobulin D with periodic fever">Hyperimmunoglobulin D with periodic fever</a></span></li><li><span class="TLline"><a 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syndrome">Hyperinsulinism-hyperammonemia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/82815" ref="tree=MeSH" title="MedGen record for Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome">Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75692" ref="tree=MeSH" title="MedGen record for Ornithine carbamoyltransferase deficiency">Ornithine carbamoyltransferase deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/8943" ref="tree=MeSH" title="MedGen record for Galactosemia">Galactosemia</a></span><ul><li><span class="TLline"><a href="/medgen/120614" ref="tree=MeSH" title="MedGen record for Deficiency of galactokinase">Deficiency of galactokinase</a></span></li><li><span class="TLline"><a href="/medgen/82777" ref="tree=MeSH" title="MedGen record for Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase">Deficiency of UDPglucose-hexose-1-phosphate 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title="MedGen record for Glycine encephalopathy">Glycine encephalopathy</a></span><ul><li><span class="TLline"><a href="/medgen/934910" ref="tree=MeSH" title="MedGen record for Atypical glycine encephalopathy">Atypical glycine encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/1781124" ref="tree=MeSH" title="MedGen record for Infantile glycine encephalopathy">Infantile glycine encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/1785446" ref="tree=MeSH" title="MedGen record for Neonatal glycine encephalopathy">Neonatal glycine encephalopathy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/148407" ref="tree=MeSH" title="MedGen record for Hereditary Central Nervous System Demyelinating Diseases">Hereditary Central Nervous System Demyelinating Diseases</a></span><ul><li><span class="TLline"><a href="/medgen/78724" ref="tree=MeSH" title="MedGen record for Alexander disease">Alexander disease</a></span><ul><li><span class="TLline"><a href="/medgen/1820954" ref="tree=MeSH" title="MedGen record for Alexander disease type I">Alexander disease type I</a></span></li><li><span class="TLline"><a href="/medgen/1842714" ref="tree=MeSH" title="MedGen record for Alexander disease type II">Alexander disease type II</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/44131" ref="tree=MeSH" title="MedGen record for Galactosylceramide beta-galactosidase deficiency">Galactosylceramide beta-galactosidase deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/120623" ref="tree=MeSH" title="MedGen record for Adult Krabbe disease">Adult Krabbe disease</a></span></li><li><span class="TLline"><a href="/medgen/148270" ref="tree=MeSH" title="MedGen record for Infantile Krabbe disease">Infantile Krabbe disease</a></span></li><li><span class="TLline"><a href="/medgen/830969" ref="tree=MeSH" title="MedGen record for Late-infantile/juvenile Krabbe disease">Late-infantile/juvenile Krabbe disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6071" ref="tree=MeSH" title="MedGen record for Metachromatic leukodystrophy">Metachromatic leukodystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/199625" ref="tree=MeSH" title="MedGen record for Metachromatic leukodystrophy, adult type">Metachromatic leukodystrophy, adult type</a></span></li><li><span class="TLline"><a href="/medgen/155528" ref="tree=MeSH" title="MedGen record for Metachromatic leukodystrophy, juvenile type">Metachromatic leukodystrophy, juvenile type</a></span></li><li><span class="TLline"><a href="/medgen/155529" ref="tree=MeSH" title="MedGen record for Metachromatic leukodystrophy, late infantile form">Metachromatic leukodystrophy, late infantile form</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/61440" ref="tree=MeSH" title="MedGen record for Pelizaeus-Merzbacher disease">Pelizaeus-Merzbacher disease</a></span><ul><li><span class="TLline"><a href="/medgen/1740046" ref="tree=MeSH" title="MedGen record for Null syndrome">Null syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1753109" ref="tree=MeSH" title="MedGen record for Pelizaeus-Merzbacher disease in female carriers">Pelizaeus-Merzbacher disease in female carriers</a></span></li><li><span class="TLline"><a href="/medgen/155959" ref="tree=MeSH" title="MedGen record for Pelizaeus-Merzbacher disease, classic form">Pelizaeus-Merzbacher disease, classic form</a></span></li><li><span class="TLline"><a href="/medgen/1842817" ref="tree=MeSH" title="MedGen record for Pelizaeus-Merzbacher disease, connatal form">Pelizaeus-Merzbacher disease, connatal form</a></span></li><li><span class="TLline"><a href="/medgen/199764" ref="tree=MeSH" title="MedGen record for Pelizaeus-Merzbacher disease, transitional form">Pelizaeus-Merzbacher disease, transitional form</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/61565" ref="tree=MeSH" title="MedGen record for Spongy degeneration of central nervous system">Spongy degeneration of central nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/865564" ref="tree=MeSH" title="MedGen record for Mild Canavan disease">Mild Canavan disease</a></span></li><li><span class="TLline"><a href="/medgen/1826002" ref="tree=MeSH" title="MedGen record for Severe Canavan disease">Severe Canavan disease</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/541332" ref="tree=MeSH" title="MedGen record for Hereditary hypertyrosinemia">Hereditary hypertyrosinemia</a></span><ul><li><span class="TLline"><a href="/medgen/75688" ref="tree=MeSH" title="MedGen record for Tyrosinemia type I">Tyrosinemia type I</a></span></li><li><span class="TLline"><a href="/medgen/75687" ref="tree=MeSH" title="MedGen record for Tyrosinemia type II">Tyrosinemia type II</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/42485" ref="tree=MeSH" title="MedGen record for Homocystinuria">Homocystinuria</a></span><ul><li><span class="TLline"><a href="/medgen/75697" ref="tree=MeSH" title="MedGen record for Arakawa syndrome 2">Arakawa syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/108623" ref="tree=MeSH" title="MedGen record for Hyperhomocysteinemia">Hyperhomocysteinemia</a></span></li><li><span class="TLline"><a href="/medgen/344640" ref="tree=MeSH" title="MedGen record for Methylcobalamin deficiency type cblE">Methylcobalamin deficiency type cblE</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/82816" ref="tree=MeSH" title="MedGen record for Hyperlysinemia">Hyperlysinemia</a></span></li><li><span class="TLline"><a href="/medgen/82800" ref="tree=MeSH" title="MedGen record for ITM2B amyloidosis">ITM2B amyloidosis</a></span><ul><li><span class="TLline"><a href="/medgen/1677186" ref="tree=MeSH" title="MedGen record for ABri amyloidosis">ABri amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/396208" ref="tree=MeSH" title="MedGen record for ADan amyloidosis">ADan amyloidosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/44095" ref="tree=MeSH" title="MedGen record for Leigh disease">Leigh disease</a></span></li><li><span class="TLline"><a href="/medgen/9721" ref="tree=MeSH" title="MedGen record for Lesch-Nyhan syndrome">Lesch-Nyhan syndrome</a></span></li><li><span class="TLline"><a href="/medgen/18145" ref="tree=MeSH" title="MedGen record for Lowe syndrome">Lowe syndrome</a></span></li><li><span class="TLline"><a href="/medgen/148380" ref="tree=MeSH" title="MedGen record for Lysosomal Storage Diseases, Nervous System">Lysosomal Storage Diseases, Nervous System</a></span><ul><li><span class="TLline"><a href="/medgen/5288" ref="tree=MeSH" title="MedGen record for Fucosidosis">Fucosidosis</a></span></li><li><span class="TLline"><a href="/medgen/5340" ref="tree=MeSH" title="MedGen record for Glycogen storage disease, type II">Glycogen storage disease, type II</a></span><ul><li><span class="TLline"><a href="/medgen/209235" ref="tree=MeSH" title="MedGen record for Danon disease">Danon disease</a></span></li><li><span class="TLline"><a href="/medgen/923868" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to acid maltase deficiency, infantile onset">Glycogen storage disease due to acid maltase deficiency, infantile onset</a></span></li><li><span class="TLline"><a href="/medgen/575206" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to acid maltase deficiency, late-onset">Glycogen storage disease due to acid maltase deficiency, late-onset</a></span></li><li><span class="TLline"><a href="/medgen/148252" ref="tree=MeSH" title="MedGen record for Glycogen storage disease type II, infantile">Glycogen storage disease type II, infantile</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/7731" ref="tree=MeSH" title="MedGen record for Mucolipidosis">Mucolipidosis</a></span><ul><li><span class="TLline"><a href="/medgen/43809" ref="tree=MeSH" title="MedGen record for Deficiency of N-acetylglucosamine-1-phosphotransferase">Deficiency of N-acetylglucosamine-1-phosphotransferase</a></span></li><li><span class="TLline"><a href="/medgen/340743" ref="tree=MeSH" title="MedGen record for GNPTG-mucolipidosis">GNPTG-mucolipidosis</a></span></li><li><span class="TLline"><a href="/medgen/435914" ref="tree=MeSH" title="MedGen record for Mucolipidosis type II">Mucolipidosis type II</a></span></li><li><span class="TLline"><a href="/medgen/896560" ref="tree=MeSH" title="MedGen record for Mucolipidosis Type IIIA">Mucolipidosis Type IIIA</a></span></li><li><span class="TLline"><a href="/medgen/68663" ref="tree=MeSH" title="MedGen record for Mucolipidosis type IV">Mucolipidosis type IV</a></span></li><li><span class="TLline"><a href="/medgen/120621" ref="tree=MeSH" title="MedGen record for Sialidosis">Sialidosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/137980" ref="tree=MeSH" title="MedGen record for Sialuria">Sialuria</a></span></li><li><span class="TLline"><a href="/medgen/52453" ref="tree=MeSH" title="MedGen record for Sphingolipidosis">Sphingolipidosis</a></span><ul><li><span class="TLline"><a href="/medgen/1635411" ref="tree=MeSH" title="MedGen record for Autosomal recessive cerebellar ataxia with late-onset spasticity">Autosomal recessive cerebellar ataxia with late-onset spasticity</a></span></li><li><span class="TLline"><a href="/medgen/382151" ref="tree=MeSH" title="MedGen record for Combined PSAP deficiency">Combined PSAP deficiency</a></span></li><li><span class="TLline"><a href="/medgen/8083" ref="tree=MeSH" title="MedGen record for Fabry disease">Fabry disease</a></span></li><li><span class="TLline"><a href="/medgen/78654" ref="tree=MeSH" title="MedGen record for Farber lipogranulomatosis">Farber lipogranulomatosis</a></span></li><li><span class="TLline"><a href="/medgen/42149" ref="tree=MeSH" title="MedGen record for Gangliosidosis">Gangliosidosis</a></span></li><li><span class="TLline"><a href="/medgen/42164" ref="tree=MeSH" title="MedGen record for Gaucher disease">Gaucher disease</a></span></li><li><span class="TLline"><a href="/medgen/75664" ref="tree=MeSH" title="MedGen record for Multiple sulfatase deficiency">Multiple sulfatase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/19908" ref="tree=MeSH" title="MedGen record for Sea-blue histiocyte syndrome">Sea-blue histiocyte syndrome</a></span></li><li><span class="TLline"><a href="/medgen/10348" ref="tree=MeSH" title="MedGen record for Sphingomyelin/cholesterol lipidosis">Sphingomyelin/cholesterol lipidosis</a></span></li><li><span class="TLline"><a href="/medgen/353254" ref="tree=MeSH" title="MedGen record for Sulfatidoses">Sulfatidoses</a></span></li><li><span class="TLline"><a href="/medgen/11713" ref="tree=MeSH" title="MedGen record for Tay-Sachs disease">Tay-Sachs disease</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/6217" ref="tree=MeSH" title="MedGen record for Maple syrup urine disease">Maple syrup urine disease</a></span><ul><li><span class="TLline"><a href="/medgen/78689" ref="tree=MeSH" title="MedGen record for Classical maple syrup urine disease">Classical maple syrup urine disease</a></span></li><li><span class="TLline"><a href="/medgen/301223" ref="tree=MeSH" title="MedGen record for Intermediate maple syrup urine disease">Intermediate maple syrup urine disease</a></span></li><li><span class="TLline"><a href="/medgen/78690" ref="tree=MeSH" title="MedGen record for Intermittent maple syrup urine disease">Intermittent maple syrup urine disease</a></span></li><li><span class="TLline"><a href="/medgen/343337" ref="tree=MeSH" title="MedGen record for Maple syrup urine disease type 2">Maple syrup urine disease type 2</a></span></li><li><span class="TLline"><a href="/medgen/383668" ref="tree=MeSH" title="MedGen record for Maple syrup urine disease type 1A">Maple syrup urine disease type 1A</a></span></li><li><span class="TLline"><a href="/medgen/443951" ref="tree=MeSH" title="MedGen record for Maple syrup urine disease type 1B">Maple syrup urine disease type 1B</a></span></li><li><span class="TLline"><a href="/medgen/199627" ref="tree=MeSH" title="MedGen record for Thiamine-responsive maple syrup urine disease">Thiamine-responsive maple syrup urine disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/56485" ref="tree=MeSH" title="MedGen record for MELAS syndrome">MELAS syndrome</a></span></li><li><span class="TLline"><a href="/medgen/44030" ref="tree=MeSH" title="MedGen record for Menkes kinky-hair syndrome">Menkes kinky-hair syndrome</a></span></li><li><span class="TLline"><a href="/medgen/56486" ref="tree=MeSH" title="MedGen record for MERRF syndrome">MERRF syndrome</a></span></li><li><span class="TLline"><a href="/medgen/6723" ref="tree=MeSH" title="MedGen record for Neutral 1 amino acid transport defect">Neutral 1 amino acid transport defect</a></span></li><li><span class="TLline"><a href="/medgen/79470" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 1B">Peroxisome biogenesis disorder 1B</a></span></li><li><span class="TLline"><a href="/medgen/19244" ref="tree=MeSH" title="MedGen record for Phenylketonuria">Phenylketonuria</a></span><ul><li><span class="TLline"><a href="/medgen/209234" ref="tree=MeSH" title="MedGen record for 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency">6-Pyruvoyl-tetrahydrobiopterin synthase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/199655" ref="tree=MeSH" title="MedGen record for Classical phenylketonuria">Classical phenylketonuria</a></span></li><li><span class="TLline"><a href="/medgen/75682" ref="tree=MeSH" title="MedGen record for Dihydropteridine reductase deficiency">Dihydropteridine reductase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1391882" ref="tree=MeSH" title="MedGen record for Hyperphenylalaninemia due to DNAJC12 deficiency">Hyperphenylalaninemia due to DNAJC12 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/88435" ref="tree=MeSH" title="MedGen record for Maternal phenylketonuria">Maternal phenylketonuria</a></span></li><li><span class="TLline"><a href="/medgen/1843033" ref="tree=MeSH" title="MedGen record for Mild hyperphenylalaninemia">Mild hyperphenylalaninemia</a></span></li><li><span class="TLline"><a href="/medgen/1842357" ref="tree=MeSH" title="MedGen record for Mild phenylketonuria">Mild phenylketonuria</a></span></li><li><span class="TLline"><a href="/medgen/1842546" ref="tree=MeSH" title="MedGen record for Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria">Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/11161" ref="tree=MeSH" title="MedGen record for Phytanic acid storage disease">Phytanic acid storage disease</a></span></li><li><span class="TLline"><a href="/medgen/18801" ref="tree=MeSH" title="MedGen record for Pyruvate carboxylase deficiency">Pyruvate carboxylase deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/1842785" ref="tree=MeSH" title="MedGen record for Pyruvate carboxylase deficiency, benign type">Pyruvate carboxylase deficiency, benign type</a></span></li><li><span class="TLline"><a href="/medgen/1842180" ref="tree=MeSH" title="MedGen record for Pyruvate carboxylase deficiency, infantile form">Pyruvate carboxylase deficiency, infantile form</a></span></li><li><span class="TLline"><a href="/medgen/1842956" ref="tree=MeSH" title="MedGen record for Pyruvate carboxylase deficiency, severe neonatal type">Pyruvate carboxylase deficiency, severe neonatal type</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/19610" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase complex deficiency">Pyruvate dehydrogenase complex deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/326486" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase E1-alpha deficiency">Pyruvate dehydrogenase E1-alpha deficiency</a></span></li><li><span class="TLline"><a href="/medgen/481471" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase E1-beta deficiency">Pyruvate dehydrogenase E1-beta deficiency</a></span></li><li><span class="TLline"><a href="/medgen/343386" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase E2 deficiency">Pyruvate dehydrogenase E2 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1805500" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase E3 deficiency">Pyruvate dehydrogenase E3 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/343383" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase E3-binding protein deficiency">Pyruvate dehydrogenase E3-binding protein deficiency</a></span></li><li><span class="TLline"><a href="/medgen/332448" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase phosphatase deficiency">Pyruvate dehydrogenase phosphatase deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/42426" ref="tree=MeSH" title="MedGen record for Wilson disease">Wilson disease</a></span></li><li><span class="TLline"><a href="/medgen/21958" ref="tree=MeSH" title="MedGen record for Zellweger spectrum disorders">Zellweger spectrum disorders</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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<div class="portlet mgSection" id="ID_105">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
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<div class="nl"><a target="_blank" href="/pubmed/35926321">An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Germain DP,
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Altarescu G,
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Barriales-Villa R,
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Mignani R,
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Pawlaczyk K,
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Pieruzzi F,
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Terryn W,
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Vujkovac B,
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Ortiz A</span><br />
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<span class="medgenPMjournal">Mol Genet Metab</span>
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2022 Sep-Oct;137(1-2):49-61.
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Epub 2022 Jul 26
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doi: 10.1016/j.ymgme.2022.07.010.
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<span class="bold">PMID: </span><a href="/pubmed/35926321" target="_blank">35926321</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/35883524">Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Succoio M,
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Sacchettini R,
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Rossi A,
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Parenti G,
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Ruoppolo M</span><br />
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<span class="medgenPMjournal">Biomolecules</span>
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2022 Jul 11;12(7)
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doi: 10.3390/biom12070968.
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<span class="bold">PMID: </span><a href="/pubmed/35883524" target="_blank">35883524</a><a href="/pmc/articles/PMC9313126" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/28987261">Wilson Disease: Diagnosis, Treatment, and Follow-up.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Schilsky ML</span><br />
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<span class="medgenPMjournal">Clin Liver Dis</span>
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2017 Nov;21(4):755-767.
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Epub 2017 Aug 10
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doi: 10.1016/j.cld.2017.06.011.
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<span class="bold">PMID: </span><a href="/pubmed/28987261" target="_blank">28987261</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(brain%20diseases%2C%20metabolic%2C%20inborn)%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 (3004)</a></div></div>
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</div>
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<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
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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/30913345">Genetic mimics of cerebral palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pearson TS,
|
||
Pons R,
|
||
Ghaoui R,
|
||
Sue CM</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2019 May;34(5):625-636.
|
||
Epub 2019 Mar 26
|
||
doi: 10.1002/mds.27655.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30913345" target="_blank">30913345</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29128155">Motor neuron disease in inherited neurometabolic disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Souza PVS,
|
||
Bortholin T,
|
||
Naylor FGM,
|
||
Chieia MAT,
|
||
de Rezende Pinto WBV,
|
||
Oliveira ASB</span><br />
|
||
<span class="medgenPMjournal">Rev Neurol (Paris)</span>
|
||
2018 Mar;174(3):115-124.
|
||
Epub 2017 Nov 8
|
||
doi: 10.1016/j.neurol.2017.06.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29128155" target="_blank">29128155</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29027595">Carnosinase, diabetes mellitus and the potential relevance of carnosinase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peters V,
|
||
Zschocke J,
|
||
Schmitt CP</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2018 Jan;41(1):39-47.
|
||
Epub 2017 Oct 13
|
||
doi: 10.1007/s10545-017-0099-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29027595" target="_blank">29027595</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28284390">Creatine Defects and Central Nervous System.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fons C,
|
||
Campistol J</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Neurol</span>
|
||
2016 Nov;23(4):285-289.
|
||
Epub 2016 Nov 17
|
||
doi: 10.1016/j.spen.2016.11.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28284390" target="_blank">28284390</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25476511">Brain imaging and genetic risk in the pediatric population, part 1: inherited metabolic diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Longo MG,
|
||
Vairo F,
|
||
Souza CF,
|
||
Giugliani R,
|
||
Vedolin LM</span><br />
|
||
<span class="medgenPMjournal">Neuroimaging Clin N Am</span>
|
||
2015 Feb;25(1):31-51.
|
||
doi: 10.1016/j.nic.2014.09.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25476511" target="_blank">25476511</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brain%20Diseases%2C%20Metabolic%2C%20Inborn%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 (145)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30913345">Genetic mimics of cerebral palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pearson TS,
|
||
Pons R,
|
||
Ghaoui R,
|
||
Sue CM</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2019 May;34(5):625-636.
|
||
Epub 2019 Mar 26
|
||
doi: 10.1002/mds.27655.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30913345" target="_blank">30913345</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29432240">Leukodystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Waldman AT</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2018 Feb;24(1, Child Neurology):130-149.
|
||
doi: 10.1212/CON.0000000000000560.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29432240" target="_blank">29432240</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23992678">Genomics in newborn screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Landau YE,
|
||
Lichter-Konecki U,
|
||
Levy HL</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2014 Jan;164(1):14-9.
|
||
Epub 2013 Aug 27
|
||
doi: 10.1016/j.jpeds.2013.07.028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23992678" target="_blank">23992678</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18472482">Genetics and epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Steinlein OK</span><br />
|
||
<span class="medgenPMjournal">Dialogues Clin Neurosci</span>
|
||
2008;10(1):29-38.
|
||
doi: 10.31887/DCNS.2008.10.1/oksteinlein.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18472482" target="_blank">18472482</a><a href="/pmc/articles/PMC3181863" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17094036">Human coenzyme Q10 deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Quinzii CM,
|
||
DiMauro S,
|
||
Hirano M</span><br />
|
||
<span class="medgenPMjournal">Neurochem Res</span>
|
||
2007 Apr-May;32(4-5):723-7.
|
||
Epub 2006 Nov 10
|
||
doi: 10.1007/s11064-006-9190-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17094036" target="_blank">17094036</a><a href="/pmc/articles/PMC1832150" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brain%20Diseases%2C%20Metabolic%2C%20Inborn%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 (323)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38632116">Dodecyl creatine ester therapy: from promise to reality.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mabondzo A,
|
||
van de Kamp J,
|
||
Mercimek-Andrews S</span><br />
|
||
<span class="medgenPMjournal">Cell Mol Life Sci</span>
|
||
2024 Apr 17;81(1):186.
|
||
doi: 10.1007/s00018-024-05218-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38632116" target="_blank">38632116</a><a href="/pmc/articles/PMC11024018" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30286847">Psychiatric Disorders Secondary to Neurometabolic Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Herrera PM,
|
||
Vélez Van Meerbeke A,
|
||
Bonnot O</span><br />
|
||
<span class="medgenPMjournal">Rev Colomb Psiquiatr (Engl Ed)</span>
|
||
2018 Oct-Dec;47(4):244-251.
|
||
Epub 2017 Jun 17
|
||
doi: 10.1016/j.rcp.2017.05.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30286847" target="_blank">30286847</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23284046">Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tiranti V,
|
||
Zeviani M</span><br />
|
||
<span class="medgenPMjournal">Cold Spring Harb Perspect Biol</span>
|
||
2013 Jan 1;5(1):a011437.
|
||
doi: 10.1101/cshperspect.a011437.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23284046" target="_blank">23284046</a><a href="/pmc/articles/PMC3579397" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17094036">Human coenzyme Q10 deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Quinzii CM,
|
||
DiMauro S,
|
||
Hirano M</span><br />
|
||
<span class="medgenPMjournal">Neurochem Res</span>
|
||
2007 Apr-May;32(4-5):723-7.
|
||
Epub 2006 Nov 10
|
||
doi: 10.1007/s11064-006-9190-z.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17094036" target="_blank">17094036</a><a href="/pmc/articles/PMC1832150" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16763900">Treatment with amino acids in serine deficiency disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Koning TJ</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2006 Apr-Jun;29(2-3):347-51.
|
||
doi: 10.1007/s10545-006-0269-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16763900" target="_blank">16763900</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brain%20Diseases%2C%20Metabolic%2C%20Inborn%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 (76)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30913345">Genetic mimics of cerebral palsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pearson TS,
|
||
Pons R,
|
||
Ghaoui R,
|
||
Sue CM</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2019 May;34(5):625-636.
|
||
Epub 2019 Mar 26
|
||
doi: 10.1002/mds.27655.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30913345" target="_blank">30913345</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29027595">Carnosinase, diabetes mellitus and the potential relevance of carnosinase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Peters V,
|
||
Zschocke J,
|
||
Schmitt CP</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2018 Jan;41(1):39-47.
|
||
Epub 2017 Oct 13
|
||
doi: 10.1007/s10545-017-0099-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29027595" target="_blank">29027595</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25521922">Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Clark JF,
|
||
Cecil KM</span><br />
|
||
<span class="medgenPMjournal">Pediatr Res</span>
|
||
2015 Mar;77(3):398-405.
|
||
Epub 2014 Dec 18
|
||
doi: 10.1038/pr.2014.203.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25521922" target="_blank">25521922</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23992678">Genomics in newborn screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Landau YE,
|
||
Lichter-Konecki U,
|
||
Levy HL</span><br />
|
||
<span class="medgenPMjournal">J Pediatr</span>
|
||
2014 Jan;164(1):14-9.
|
||
Epub 2013 Aug 27
|
||
doi: 10.1016/j.jpeds.2013.07.028.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23992678" target="_blank">23992678</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22241392">Cerebral neoplasms in L-2 hydroxyglutaric aciduria: 3 new cases and meta-analysis of literature data.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patay Z,
|
||
Mills JC,
|
||
Löbel U,
|
||
Lambert A,
|
||
Sablauer A,
|
||
Ellison DW</span><br />
|
||
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
|
||
2012 May;33(5):940-3.
|
||
Epub 2012 Jan 12
|
||
doi: 10.3174/ajnr.A2869.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22241392" target="_blank">22241392</a><a href="/pmc/articles/PMC7968825" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brain%20Diseases%2C%20Metabolic%2C%20Inborn%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 (101)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37248298">Enasidenib treatment in two individuals with D-2-hydroxyglutaric aciduria carrying a germline IDH2 mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Geoerger B,
|
||
Schiff M,
|
||
Penard-Lacronique V,
|
||
Darin N,
|
||
Saad SM,
|
||
Duchon C,
|
||
Lamazière A,
|
||
Desmons A,
|
||
Pontoizeau C,
|
||
Berlanga P,
|
||
Ducassou S,
|
||
Yen K,
|
||
Su M,
|
||
Schenkein D,
|
||
Ottolenghi C,
|
||
De Botton S</span><br />
|
||
<span class="medgenPMjournal">Nat Med</span>
|
||
2023 Jun;29(6):1358-1363.
|
||
Epub 2023 May 29
|
||
doi: 10.1038/s41591-023-02382-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37248298" target="_blank">37248298</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33931985">Exploring triheptanoin as treatment for short chain enoyl CoA hydratase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Engelstad K,
|
||
Salazar R,
|
||
Koenigsberger D,
|
||
Stackowtiz E,
|
||
Brodlie S,
|
||
Brandabur M,
|
||
De Vivo DC</span><br />
|
||
<span class="medgenPMjournal">Ann Clin Transl Neurol</span>
|
||
2021 May;8(5):1151-1157.
|
||
Epub 2021 May 1
|
||
doi: 10.1002/acn3.51359.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33931985" target="_blank">33931985</a><a href="/pmc/articles/PMC8108413" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18588526">Mechanisms of neurodegeneration in Huntington's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gil JM,
|
||
Rego AC</span><br />
|
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<span class="medgenPMjournal">Eur J Neurosci</span>
|
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2008 Jun;27(11):2803-20.
|
||
doi: 10.1111/j.1460-9568.2008.06310.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18588526" target="_blank">18588526</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18344012">Leukoencephalopathies associated with inborn errors of metabolism in adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sedel F,
|
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Tourbah A,
|
||
Fontaine B,
|
||
Lubetzki C,
|
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Baumann N,
|
||
Saudubray JM,
|
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Lyon-Caen O</span><br />
|
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<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2008 Jun;31(3):295-307.
|
||
Epub 2008 Feb 25
|
||
doi: 10.1007/s10545-008-0778-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18344012" target="_blank">18344012</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15021249">Serine-deficiency syndromes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Koning TJ,
|
||
Klomp LW</span><br />
|
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<span class="medgenPMjournal">Curr Opin Neurol</span>
|
||
2004 Apr;17(2):197-204.
|
||
doi: 10.1097/00019052-200404000-00019.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15021249" target="_blank">15021249</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brain%20Diseases%2C%20Metabolic%2C%20Inborn%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 (98)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/33596448">Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grünert SC,
|
||
Foster W,
|
||
Schumann A,
|
||
Lund A,
|
||
Pontes C,
|
||
Roloff S,
|
||
Weinhold N,
|
||
Yue WW,
|
||
AlAsmari A,
|
||
Obaid OA,
|
||
Faqeih EA,
|
||
Stübbe L,
|
||
Yamamoto R,
|
||
Gemperle-Britschgi C,
|
||
Walter M,
|
||
Spiekerkoetter U,
|
||
Mackinnon S,
|
||
Sass JO</span><br />
|
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<span class="medgenPMjournal">Biochimie</span>
|
||
2021 Apr;183:55-62.
|
||
Epub 2021 Feb 14
|
||
doi: 10.1016/j.biochi.2021.02.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33596448" target="_blank">33596448</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24953403">Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dunbar M,
|
||
Jaggumantri S,
|
||
Sargent M,
|
||
Stockler-Ipsiroglu S,
|
||
van Karnebeek CD</span><br />
|
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<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2014 Aug;112(4):259-74.
|
||
Epub 2014 May 29
|
||
doi: 10.1016/j.ymgme.2014.05.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24953403" target="_blank">24953403</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Brain%20Diseases%2C%20Metabolic%2C%20Inborn%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 (2)</a></div></div>
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