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<meta name="keywords" content="C1855119, disease or syndrome, finding, high blood methylmalonic acid levels, methylmalonic aciduria, methymalonicaciduria, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Increased concentration of methylmalonic acid in the urine." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=343266
|
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ConceptID=C1855119
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Methylmalonic aciduria</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343266</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C1855119</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Methylmalonic Aciduria</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0012120">HP:0012120</a></td></tr>
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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">Increased concentration of methylmalonic acid in the urine. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1855119[DISCUI]&test_type=Clinical" ref="ncbi_uid=343266">C</a></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 Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=343266" ref="ncbi_uid=343266">V</a></span></span><span class="TLline">Methylmalonic aciduria</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/869020" ref="tree=MeSH" title="MedGen record for Abnormality of the urinary system physiology">Abnormality of the urinary system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/871178" ref="tree=MeSH" title="MedGen record for Abnormality of urine homeostasis">Abnormality of urine homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/1785188" ref="tree=MeSH" title="MedGen record for Abnormal urine metabolite level">Abnormal urine metabolite level</a></span><ul><li><span class="TLline"><a href="/medgen/1671015" ref="tree=MeSH" title="MedGen record for Abnormal urine carboxylic acid level">Abnormal urine carboxylic acid level</a></span><ul><li><span class="TLline"><a href="/medgen/868022" ref="tree=MeSH" title="MedGen record for Elevated urinary carboxylic acid">Elevated urinary carboxylic acid</a></span><ul><li><span class="TLline"><a href="/medgen/343550" ref="tree=MeSH" title="MedGen record for Dicarboxylic aciduria">Dicarboxylic aciduria</a></span><ul><li><span class="matched_ds">Methylmalonic aciduria</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</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">
|
||
<div class="divPopper rprt" id="rdis_137976"><div><strong>Transcobalamin II deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>137976</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.">C0342701</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Transcobalamin II deficiency (TCN2D) is an autosomal recessive disorder with onset in early infancy characterized by failure to thrive, megaloblastic anemia, and pancytopenia. Other features include methylmalonic aciduria, recurrent infections, and vomiting and diarrhea. Treatment with cobalamin results in clinical improvement, but the untreated disorder may result in mental retardation and neurologic abnormalities (summary by Haberle et al., 2009). Hall (1981) gave a clinically oriented review of congenital defects of vitamin B12 transport, and Frater-Schroder (1983) gave a genetically oriented review.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/137976">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_91001"><div><strong>Deficiency of malonyl-CoA decarboxylase</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>91001</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.">C0342793</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Malonyl-CoA decarboxylase deficiency is an uncommon inherited metabolic disease. The characteristic phenotype is variable, but may include developmental delay in early childhood, seizures, hypotonia, diarrhea, vomiting, metabolic acidosis, hypoglycemia, ketosis, abnormal urinary compounds, lactic acidemia, and hypertrophic cardiomyopathy (Sweetman and Williams, 2001).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/91001">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_167111"><div><strong>Methylmalonic acidemia with homocystinuria, type cblX</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167111</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.">C0796208</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/167111">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_344419"><div><strong>Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344419</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.">C1855100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">For this GeneReview, the term "isolated methylmalonic acidemia" refers to a group of inborn errors of metabolism associated with elevated methylmalonic acid (MMA) concentration in the blood and urine that result from the failure to isomerize (convert) methylmalonyl-coenzyme A (CoA) into succinyl-CoA during propionyl-CoA metabolism in the mitochondrial matrix, without hyperhomocysteinemia or homocystinuria, hypomethioninemia, or variations in other metabolites, such as malonic acid. Isolated MMA is caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut– enzymatic subtype, respectively), a defect in the transport or synthesis of its cofactor, 5-deoxy-adenosyl-cobalamin (cblA, cblB, or cblD-MMA), or deficiency of the enzyme methylmalonyl-CoA epimerase. Prior to the advent of newborn screening, common phenotypes included: Infantile/non-B12-responsive form (mut0 enzymatic subtype, cblB), the most common phenotype, associated with infantile-onset lethargy, tachypnea, hypothermia, vomiting, and dehydration on initiation of protein-containing feeds. Without appropriate treatment, the infantile/non-B12-responsive phenotype could rapidly progress to coma due to hyperammonemic encephalopathy. Partially deficient or B12-responsive phenotypes (mut– enzymatic subtype, cblA, cblB [rare], cblD-MMA), in which symptoms occur in the first few months or years of life and are characterized by feeding problems, failure to thrive, hypotonia, and developmental delay marked by episodes of metabolic decompensation. Methylmalonyl-CoA epimerase deficiency, in which findings range from complete absence of symptoms to severe metabolic acidosis. Affected individuals can also develop ataxia, dysarthria, hypotonia, mild spastic paraparesis, and seizures. In those individuals diagnosed by newborn screening and treated from an early age, there appears to be decreased early mortality, less severe symptoms at diagnosis, favorable short-term neurodevelopmental outcome, and lower incidence of movement disorders and irreversible cerebral damage. However, secondary complications may still occur and can include intellectual disability, tubulointerstitial nephritis with progressive impairment of renal function, "metabolic stroke" (bilateral lacunar infarction of the basal ganglia during acute metabolic decompensation), pancreatitis, growth failure, functional immune impairment, bone marrow failure, optic nerve atrophy, arrhythmias and/or cardiomyopathy (dilated or hypertrophic), liver steatosis/fibrosis/cancer, and renal cancer.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344419">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_344420"><div><strong>Methylmalonic aciduria, cblB type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344420</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.">C1855102</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">For this GeneReview, the term "isolated methylmalonic acidemia" refers to a group of inborn errors of metabolism associated with elevated methylmalonic acid (MMA) concentration in the blood and urine that result from the failure to isomerize (convert) methylmalonyl-coenzyme A (CoA) into succinyl-CoA during propionyl-CoA metabolism in the mitochondrial matrix, without hyperhomocysteinemia or homocystinuria, hypomethioninemia, or variations in other metabolites, such as malonic acid. Isolated MMA is caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut– enzymatic subtype, respectively), a defect in the transport or synthesis of its cofactor, 5-deoxy-adenosyl-cobalamin (cblA, cblB, or cblD-MMA), or deficiency of the enzyme methylmalonyl-CoA epimerase. Prior to the advent of newborn screening, common phenotypes included: Infantile/non-B12-responsive form (mut0 enzymatic subtype, cblB), the most common phenotype, associated with infantile-onset lethargy, tachypnea, hypothermia, vomiting, and dehydration on initiation of protein-containing feeds. Without appropriate treatment, the infantile/non-B12-responsive phenotype could rapidly progress to coma due to hyperammonemic encephalopathy. Partially deficient or B12-responsive phenotypes (mut– enzymatic subtype, cblA, cblB [rare], cblD-MMA), in which symptoms occur in the first few months or years of life and are characterized by feeding problems, failure to thrive, hypotonia, and developmental delay marked by episodes of metabolic decompensation. Methylmalonyl-CoA epimerase deficiency, in which findings range from complete absence of symptoms to severe metabolic acidosis. Affected individuals can also develop ataxia, dysarthria, hypotonia, mild spastic paraparesis, and seizures. In those individuals diagnosed by newborn screening and treated from an early age, there appears to be decreased early mortality, less severe symptoms at diagnosis, favorable short-term neurodevelopmental outcome, and lower incidence of movement disorders and irreversible cerebral damage. However, secondary complications may still occur and can include intellectual disability, tubulointerstitial nephritis with progressive impairment of renal function, "metabolic stroke" (bilateral lacunar infarction of the basal ganglia during acute metabolic decompensation), pancreatitis, growth failure, functional immune impairment, bone marrow failure, optic nerve atrophy, arrhythmias and/or cardiomyopathy (dilated or hypertrophic), liver steatosis/fibrosis/cancer, and renal cancer.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344420">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_344422"><div><strong>Methylmalonic aciduria, cblA type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344422</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.">C1855109</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">For this GeneReview, the term "isolated methylmalonic acidemia" refers to a group of inborn errors of metabolism associated with elevated methylmalonic acid (MMA) concentration in the blood and urine that result from the failure to isomerize (convert) methylmalonyl-coenzyme A (CoA) into succinyl-CoA during propionyl-CoA metabolism in the mitochondrial matrix, without hyperhomocysteinemia or homocystinuria, hypomethioninemia, or variations in other metabolites, such as malonic acid. Isolated MMA is caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut– enzymatic subtype, respectively), a defect in the transport or synthesis of its cofactor, 5-deoxy-adenosyl-cobalamin (cblA, cblB, or cblD-MMA), or deficiency of the enzyme methylmalonyl-CoA epimerase. Prior to the advent of newborn screening, common phenotypes included: Infantile/non-B12-responsive form (mut0 enzymatic subtype, cblB), the most common phenotype, associated with infantile-onset lethargy, tachypnea, hypothermia, vomiting, and dehydration on initiation of protein-containing feeds. Without appropriate treatment, the infantile/non-B12-responsive phenotype could rapidly progress to coma due to hyperammonemic encephalopathy. Partially deficient or B12-responsive phenotypes (mut– enzymatic subtype, cblA, cblB [rare], cblD-MMA), in which symptoms occur in the first few months or years of life and are characterized by feeding problems, failure to thrive, hypotonia, and developmental delay marked by episodes of metabolic decompensation. Methylmalonyl-CoA epimerase deficiency, in which findings range from complete absence of symptoms to severe metabolic acidosis. Affected individuals can also develop ataxia, dysarthria, hypotonia, mild spastic paraparesis, and seizures. In those individuals diagnosed by newborn screening and treated from an early age, there appears to be decreased early mortality, less severe symptoms at diagnosis, favorable short-term neurodevelopmental outcome, and lower incidence of movement disorders and irreversible cerebral damage. However, secondary complications may still occur and can include intellectual disability, tubulointerstitial nephritis with progressive impairment of renal function, "metabolic stroke" (bilateral lacunar infarction of the basal ganglia during acute metabolic decompensation), pancreatitis, growth failure, functional immune impairment, bone marrow failure, optic nerve atrophy, arrhythmias and/or cardiomyopathy (dilated or hypertrophic), liver steatosis/fibrosis/cancer, and renal cancer.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344422">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_344424"><div><strong>Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344424</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.">C1855114</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">For this GeneReview, the term "isolated methylmalonic acidemia" refers to a group of inborn errors of metabolism associated with elevated methylmalonic acid (MMA) concentration in the blood and urine that result from the failure to isomerize (convert) methylmalonyl-coenzyme A (CoA) into succinyl-CoA during propionyl-CoA metabolism in the mitochondrial matrix, without hyperhomocysteinemia or homocystinuria, hypomethioninemia, or variations in other metabolites, such as malonic acid. Isolated MMA is caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut– enzymatic subtype, respectively), a defect in the transport or synthesis of its cofactor, 5-deoxy-adenosyl-cobalamin (cblA, cblB, or cblD-MMA), or deficiency of the enzyme methylmalonyl-CoA epimerase. Prior to the advent of newborn screening, common phenotypes included: Infantile/non-B12-responsive form (mut0 enzymatic subtype, cblB), the most common phenotype, associated with infantile-onset lethargy, tachypnea, hypothermia, vomiting, and dehydration on initiation of protein-containing feeds. Without appropriate treatment, the infantile/non-B12-responsive phenotype could rapidly progress to coma due to hyperammonemic encephalopathy. Partially deficient or B12-responsive phenotypes (mut– enzymatic subtype, cblA, cblB [rare], cblD-MMA), in which symptoms occur in the first few months or years of life and are characterized by feeding problems, failure to thrive, hypotonia, and developmental delay marked by episodes of metabolic decompensation. Methylmalonyl-CoA epimerase deficiency, in which findings range from complete absence of symptoms to severe metabolic acidosis. Affected individuals can also develop ataxia, dysarthria, hypotonia, mild spastic paraparesis, and seizures. In those individuals diagnosed by newborn screening and treated from an early age, there appears to be decreased early mortality, less severe symptoms at diagnosis, favorable short-term neurodevelopmental outcome, and lower incidence of movement disorders and irreversible cerebral damage. However, secondary complications may still occur and can include intellectual disability, tubulointerstitial nephritis with progressive impairment of renal function, "metabolic stroke" (bilateral lacunar infarction of the basal ganglia during acute metabolic decompensation), pancreatitis, growth failure, functional immune impairment, bone marrow failure, optic nerve atrophy, arrhythmias and/or cardiomyopathy (dilated or hypertrophic), liver steatosis/fibrosis/cancer, and renal cancer.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344424">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_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_413170"><div><strong>Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>413170</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.">C2749864</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SUCLA2-related mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria (SUCLA2-related mtDNA depletion syndrome) is characterized by onset of the following features in infancy: developmental delay, hypotonia, dystonia, muscular atrophy, sensorineural hearing impairment, growth failure, and feeding difficulties. Other less frequent features include choreoathetosis, muscle weakness, recurrent vomiting, ptosis, and kyphoscoliosis. The median survival is age 20 years; approximately 30% of affected individuals succumb during childhood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/413170">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_462826"><div><strong>Mitochondrial DNA depletion syndrome 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462826</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.">C3151476</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">SUCLG1-related mitochondrial DNA (mtDNA) depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized in the majority of affected newborns by hypotonia, muscle atrophy, feeding difficulties, and lactic acidosis. Affected infants commonly manifest developmental delay / cognitive impairment, growth retardation / failure to thrive, hepatopathy, sensorineural hearing impairment, dystonia, and hypertonia. Notable findings in some affected individuals include hypertrophic cardiomyopathy, epilepsy, myoclonus, microcephaly, sleep disturbance, rhabdomyolysis, contractures, hypothermia, and/or hypoglycemia. Life span is shortened, with median survival of 20 months.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/462826">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_481470"><div><strong>Methylmalonate semialdehyde dehydrogenase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481470</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.">C3279840</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Methylmalonate semialdehyde dehydrogenase deficiency is a rare autosomal recessive inborn error of metabolism with a highly variable phenotype. Some patients may be asymptomatic, whereas others show global developmental delay, nonspecific dysmorphic features, and delayed myelination on brain imaging. Laboratory studies typically show increased urinary 3-hydroxyisobutyric acid, although additional metabolic abnormalities may also be observed (summary by Marcadier et al., 2013).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/481470">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_481944"><div><strong>Combined malonic and methylmalonic acidemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481944</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.">C3280314</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined malonic and methylmalonic aciduria (CMAMMA) is a rare recessive inborn error of metabolism characterized by elevations of urine malonic acid (MA) and methylmalonic acid (MMA). MMA excretion is higher than MA in CMAMMA patients, unlike patients with malonyl-CoA decarboxylase deficiency (248360) in whom the biochemical abnormalities include elevated MA alone or combined elevations of MA and MMA with MA mainly being higher than MMA. The clinical significance of CMAMMA is controversial. Initially, CMAMMA patients were ascertained during investigation of children with symptoms suggestive of a metabolic disorder or adults with neurologic manifestations (Sloan et al., 2011). Levtova et al. (2019) described CMAMMA patients identified by neonatal screening who had a favorable clinical course.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/481944">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_766829"><div><strong>Methylmalonic acidemia with homocystinuria, type cblJ</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766829</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.">C3553915</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous metabolic disorder of cobalamin (cbl; vitamin B12) metabolism, which is essential for hematologic and neurologic function. Biochemically, the defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT; 609058) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR; 156570). The cblJ type is phenotypically and biochemically similar to the cblF type (MAHCF; 277380) (summary by Coelho et al., 2012).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/766829">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_816331"><div><strong>Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816331</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.">C3810001</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
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<div class="spaceAbove">Combined oxidative phosphorylation deficiency-18 (COXPD18) is an autosomal recessive disorder of mitochondrial function characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis associated with decreased mitochondrial respiratory chain activity. Affected patients may also show hematologic abnormalities, mainly macrocytic anemia (summary by Hildick-Smith et al., 2013). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816331">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_1670056"><div><strong>Methylmalonic acidemia due to transcobalamin receptor defect</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1670056</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.">C4749905</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare metabolite absorption and transport disorder with characteristics of moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however; screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported. Caused by mutation in the gene encoding the transcobalamin receptor (CD320).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1670056">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824034"><div><strong>Combined oxidative phosphorylation deficiency 56</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824034</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.">C5774261</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined oxidative phosphorylation deficiency-56 (COXPD56) is an autosomal recessive disorder characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis (Thompson et al., 2022). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824034">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_481944" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined malonic and methylmalonic acidemia</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824034" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation deficiency 56</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_91001" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deficiency of malonyl-CoA decarboxylase</a></div>
|
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816331" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (20)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<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>
|
||
<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>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481470" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Methylmalonate semialdehyde dehydrogenase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344419" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1670056" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Methylmalonic acidemia due to transcobalamin receptor defect</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766829" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Methylmalonic acidemia with homocystinuria, type cblJ</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_167111" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Methylmalonic acidemia with homocystinuria, type cblX</a></div>
|
||
<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_344424" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344422" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Methylmalonic aciduria, cblA type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344420" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Methylmalonic aciduria, cblB type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462826" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 9</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_413170" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_137976" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Transcobalamin II deficiency</a></div></span></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35361390">The genotype analysis and prenatal genetic diagnosis among 244 pedigrees with methylmalonic aciduria in China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hu S,
|
||
Kong X</span><br />
|
||
<span class="medgenPMjournal">Taiwan J Obstet Gynecol</span>
|
||
2022 Mar;61(2):290-298.
|
||
doi: 10.1016/j.tjog.2022.02.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35361390" target="_blank">35361390</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30157807">Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hu S,
|
||
Mei S,
|
||
Liu N,
|
||
Kong X</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genet</span>
|
||
2018 Aug 29;19(1):154.
|
||
doi: 10.1186/s12881-018-0666-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30157807" target="_blank">30157807</a><a href="/pmc/articles/PMC6116561" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29197662">New perspectives for pharmacological chaperoning treatment in methylmalonic aciduria cblB type.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brasil S,
|
||
Briso-Montiano A,
|
||
Gámez A,
|
||
Underhaug J,
|
||
Flydal MI,
|
||
Desviat L,
|
||
Merinero B,
|
||
Ugarte M,
|
||
Martinez A,
|
||
Pérez B</span><br />
|
||
<span class="medgenPMjournal">Biochim Biophys Acta Mol Basis Dis</span>
|
||
2018 Feb;1864(2):640-648.
|
||
Epub 2017 Dec 2
|
||
doi: 10.1016/j.bbadis.2017.11.024.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29197662" target="_blank">29197662</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22methylmalonic%20aciduria%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 (46)</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/37243446">Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Manoli I,
|
||
Gebremariam A,
|
||
McCoy S,
|
||
Pass AR,
|
||
Gagné J,
|
||
Hall C,
|
||
Ferry S,
|
||
Van Ryzin C,
|
||
Sloan JL,
|
||
Sacchetti E,
|
||
Catesini G,
|
||
Rizzo C,
|
||
Martinelli D,
|
||
Spada M,
|
||
Dionisi-Vici C,
|
||
Venditti CP</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2023 Jul;46(4):554-572.
|
||
Epub 2023 Jun 6
|
||
doi: 10.1002/jimd.12636.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37243446" target="_blank">37243446</a><a href="/pmc/articles/PMC10330948" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37067856">Safety, efficacy, and timing of transplantation(s) in propionic and methylmalonic aciduria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chakrapani A,
|
||
Stojanovic J,
|
||
Vara R,
|
||
De Nictolis F,
|
||
Spada M,
|
||
Dionisi-Vici C</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2023 May;46(3):466-481.
|
||
Epub 2023 Apr 24
|
||
doi: 10.1002/jimd.12613.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37067856" target="_blank">37067856</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16602092">Methylmalonic and propionic aciduria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deodato F,
|
||
Boenzi S,
|
||
Santorelli FM,
|
||
Dionisi-Vici C</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2006 May 15;142C(2):104-12.
|
||
doi: 10.1002/ajmg.c.30090.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16602092" target="_blank">16602092</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16435224">Methylmalonic aciduria: follow-up and enzymology on the original case after 36 years.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bain MD,
|
||
Till J,
|
||
Jones MG,
|
||
Besley GT,
|
||
Lee P,
|
||
Oliveira D,
|
||
Chalmers RA</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2005;28(6):1179-80.
|
||
doi: 10.1007/s10545-005-0244-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16435224" target="_blank">16435224</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12069539">Branched-chain organic acidurias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ogier de Baulny H,
|
||
Saudubray JM</span><br />
|
||
<span class="medgenPMjournal">Semin Neonatol</span>
|
||
2002 Feb;7(1):65-74.
|
||
doi: 10.1053/siny.2001.0087.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12069539" target="_blank">12069539</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Methylmalonic%20aciduria%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 (144)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37243446">Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Manoli I,
|
||
Gebremariam A,
|
||
McCoy S,
|
||
Pass AR,
|
||
Gagné J,
|
||
Hall C,
|
||
Ferry S,
|
||
Van Ryzin C,
|
||
Sloan JL,
|
||
Sacchetti E,
|
||
Catesini G,
|
||
Rizzo C,
|
||
Martinelli D,
|
||
Spada M,
|
||
Dionisi-Vici C,
|
||
Venditti CP</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2023 Jul;46(4):554-572.
|
||
Epub 2023 Jun 6
|
||
doi: 10.1002/jimd.12636.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37243446" target="_blank">37243446</a><a href="/pmc/articles/PMC10330948" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35361390">The genotype analysis and prenatal genetic diagnosis among 244 pedigrees with methylmalonic aciduria in China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hu S,
|
||
Kong X</span><br />
|
||
<span class="medgenPMjournal">Taiwan J Obstet Gynecol</span>
|
||
2022 Mar;61(2):290-298.
|
||
doi: 10.1016/j.tjog.2022.02.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35361390" target="_blank">35361390</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30157807">Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hu S,
|
||
Mei S,
|
||
Liu N,
|
||
Kong X</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genet</span>
|
||
2018 Aug 29;19(1):154.
|
||
doi: 10.1186/s12881-018-0666-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30157807" target="_blank">30157807</a><a href="/pmc/articles/PMC6116561" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29318410">Flux analysis of inborn errors of metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reijngoud DJ</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2018 May;41(3):309-328.
|
||
Epub 2018 Jan 9
|
||
doi: 10.1007/s10545-017-0124-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29318410" target="_blank">29318410</a><a href="/pmc/articles/PMC5959979" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12069539">Branched-chain organic acidurias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ogier de Baulny H,
|
||
Saudubray JM</span><br />
|
||
<span class="medgenPMjournal">Semin Neonatol</span>
|
||
2002 Feb;7(1):65-74.
|
||
doi: 10.1053/siny.2001.0087.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12069539" target="_blank">12069539</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Methylmalonic%20aciduria%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 (269)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37243446">Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Manoli I,
|
||
Gebremariam A,
|
||
McCoy S,
|
||
Pass AR,
|
||
Gagné J,
|
||
Hall C,
|
||
Ferry S,
|
||
Van Ryzin C,
|
||
Sloan JL,
|
||
Sacchetti E,
|
||
Catesini G,
|
||
Rizzo C,
|
||
Martinelli D,
|
||
Spada M,
|
||
Dionisi-Vici C,
|
||
Venditti CP</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2023 Jul;46(4):554-572.
|
||
Epub 2023 Jun 6
|
||
doi: 10.1002/jimd.12636.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37243446" target="_blank">37243446</a><a href="/pmc/articles/PMC10330948" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/37067856">Safety, efficacy, and timing of transplantation(s) in propionic and methylmalonic aciduria.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Chakrapani A,
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Stojanovic J,
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Vara R,
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Epub 2023 Apr 24
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doi: 10.1002/jimd.12613.
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<span class="bold">PMID: </span><a href="/pubmed/37067856" target="_blank">37067856</a></div>
|
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|
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<div class="nl"><a target="_blank" href="/pubmed/31401947">Hyperhomocysteinemia: a trigger for complement-mediated TMA?</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Bernards J,
|
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Doubel P,
|
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Meeus G,
|
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Lerut E,
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Corveleyn A,
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Van Den Heuvel LP,
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Meersseman W,
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Kuypers DK,
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Claes KJ</span><br />
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Epub 2019 Aug 11
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<span class="bold">PMID: </span><a href="/pubmed/31401947" target="_blank">31401947</a></div>
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|
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<div class="nl"><a target="_blank" href="/pubmed/5648598">Methylmalonic aciduria. An inborn error leading to metabolic acidosis, long-chain ketonuria and intermittent hyperglycinemia.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Rosenberg LE,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Methylmalonic%20aciduria%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 (109)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/37243446">Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Manoli I,
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Gebremariam A,
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McCoy S,
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Pass AR,
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Gagné J,
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Hall C,
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Ferry S,
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Van Ryzin C,
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Sloan JL,
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Sacchetti E,
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<span class="medgenPMjournal">J Inherit Metab Dis</span>
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2023 Jul;46(4):554-572.
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Epub 2023 Jun 6
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doi: 10.1002/jimd.12636.
|
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<span class="bold">PMID: </span><a href="/pubmed/37243446" target="_blank">37243446</a><a href="/pmc/articles/PMC10330948" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31401947">Hyperhomocysteinemia: a trigger for complement-mediated TMA?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bernards J,
|
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Doubel P,
|
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Meeus G,
|
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Lerut E,
|
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Corveleyn A,
|
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Van Den Heuvel LP,
|
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Meersseman W,
|
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Kuypers DK,
|
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Claes KJ</span><br />
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<span class="medgenPMjournal">Acta Clin Belg</span>
|
||
2021 Feb;76(1):65-69.
|
||
Epub 2019 Aug 11
|
||
doi: 10.1080/17843286.2019.1649039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31401947" target="_blank">31401947</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16602092">Methylmalonic and propionic aciduria.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Deodato F,
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Boenzi S,
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Santorelli FM,
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<span class="bold">PMID: </span><a href="/pubmed/16602092" target="_blank">16602092</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/16435224">Methylmalonic aciduria: follow-up and enzymology on the original case after 36 years.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Bain MD,
|
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Till J,
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Jones MG,
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Besley GT,
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Lee P,
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Oliveira D,
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2005;28(6):1179-80.
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doi: 10.1007/s10545-005-0244-1.
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<span class="bold">PMID: </span><a href="/pubmed/16435224" target="_blank">16435224</a></div>
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||
<div class="nl"><a target="_blank" href="/pubmed/12069539">Branched-chain organic acidurias.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Ogier de Baulny H,
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Saudubray JM</span><br />
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<span class="medgenPMjournal">Semin Neonatol</span>
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2002 Feb;7(1):65-74.
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doi: 10.1053/siny.2001.0087.
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<span class="bold">PMID: </span><a href="/pubmed/12069539" target="_blank">12069539</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Methylmalonic%20aciduria%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 (109)</a></div><h3 class="subhead">Clinical prediction guides</h3>
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||
<div class="nl"><a target="_blank" href="/pubmed/38563533">Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Reischl-Hajiabadi AT,
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Schnabel E,
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Gleich F,
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Mengler K,
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Lindner M,
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Burgard P,
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Lommer-Steinhoff S,
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Grünert SC,
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Thimm E,
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Freisinger P,
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Hennermann JB,
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Krämer J,
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Gramer G,
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Lenz D,
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Christ S,
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Hörster F,
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Hoffmann GF,
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Garbade SF,
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Kölker S,
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Mütze U</span><br />
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<span class="medgenPMjournal">J Inherit Metab Dis</span>
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2024 Jul;47(4):674-689.
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Epub 2024 Apr 2
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doi: 10.1002/jimd.12731.
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<span class="bold">PMID: </span><a href="/pubmed/38563533" target="_blank">38563533</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37243446">Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Manoli I,
|
||
Gebremariam A,
|
||
McCoy S,
|
||
Pass AR,
|
||
Gagné J,
|
||
Hall C,
|
||
Ferry S,
|
||
Van Ryzin C,
|
||
Sloan JL,
|
||
Sacchetti E,
|
||
Catesini G,
|
||
Rizzo C,
|
||
Martinelli D,
|
||
Spada M,
|
||
Dionisi-Vici C,
|
||
Venditti CP</span><br />
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<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2023 Jul;46(4):554-572.
|
||
Epub 2023 Jun 6
|
||
doi: 10.1002/jimd.12636.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37243446" target="_blank">37243446</a><a href="/pmc/articles/PMC10330948" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31401947">Hyperhomocysteinemia: a trigger for complement-mediated TMA?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bernards J,
|
||
Doubel P,
|
||
Meeus G,
|
||
Lerut E,
|
||
Corveleyn A,
|
||
Van Den Heuvel LP,
|
||
Meersseman W,
|
||
Kuypers DK,
|
||
Claes KJ</span><br />
|
||
<span class="medgenPMjournal">Acta Clin Belg</span>
|
||
2021 Feb;76(1):65-69.
|
||
Epub 2019 Aug 11
|
||
doi: 10.1080/17843286.2019.1649039.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31401947" target="_blank">31401947</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1346616">Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Crane AM,
|
||
Jansen R,
|
||
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1992 Feb;89(2):385-91.
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|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7357085">Congenital methylmalonic aciduria--homocystinuria with megaloblastic anemia: observations on response to hydroxocobalamin and on the effect of homocysteine and methionine on the deoxyuridine suppression test.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Carmel R,
|
||
Bedros AA,
|
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|
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|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Methylmalonic%20aciduria%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 (120)</a></div></div>
|
||
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|
||
|
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<div class="portlet mgSection" id="ID_104">
|
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<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>
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||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/33422927">Safety and efficacy of liver transplantation for methylmalonic acidemia: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiang YZ,
|
||
Zhou GP,
|
||
Wu SS,
|
||
Kong YY,
|
||
Zhu ZJ,
|
||
Sun LY</span><br />
|
||
<span class="medgenPMjournal">Transplant Rev (Orlando)</span>
|
||
2021 Jan;35(1):100592.
|
||
Epub 2020 Dec 18
|
||
doi: 10.1016/j.trre.2020.100592.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33422927" target="_blank">33422927</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Methylmalonic%20aciduria%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 (1)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1855119%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (7)</a></li>
|
||
<li><a href="/gtr/tests?term=C1855119%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (10)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1855119%5bDISCUI%5d" target="_blank">See all (10)</a></total></li>
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