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<!--
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||
UID=381478
|
||
ConceptID=C1854704
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Metabolic ketoacidosis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381478</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.">C1854704</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Ketoacidoses, Metabolic; Ketoacidosis, Metabolic; Ketoses, Metabolic; Ketosis, Metabolic; Metabolic Ketoacidoses; Metabolic Ketoacidosis; Metabolic Ketoses; Metabolic Ketosis</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:0005979">HP:0005979</a></td></tr>
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake. [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=C1854704[DISCUI]&test_type=Clinical&redirect=true" ref="ncbi_uid=381478">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 unavailable" title="ClinVar">V</span></span><span class="TLline">Metabolic ketoacidosis</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/867398" ref="tree=MeSH" title="MedGen record for Abnormality of metabolism/homeostasis">Abnormality of metabolism/homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/7206" ref="tree=MeSH" title="MedGen record for Ketosis">Ketosis</a></span><ul><li><span class="TLline"><a href="/medgen/67434" ref="tree=MeSH" title="MedGen record for Ketoacidosis">Ketoacidosis</a></span><ul><li><span class="matched_ds">Metabolic ketoacidosis</span></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_66323"><div><strong>Biotinidase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66323</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.">C0220754</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple carboxylase deficiency (MCD) is an autosomal recessive metabolic disorder characterized primarily by cutaneous and neurologic abnormalities. Symptoms result from the patient's inability to reutilize biotin, a necessary nutrient. Sweetman (1981) recognized that multiple carboxylase deficiency could be classified into early (see 253270) and late forms. The early form showed higher urinary excretion of 3-hydroxyisovaleric acid and 3-hydroxypropionic acid than the late form and was associated with normal plasma biotin concentrations. Sweetman (1981) proposed a defect in holocarboxylase synthetase and intestinal biotin absorption, respectively. Some patients with biotinidase deficiency present in infancy (Baumgartner et al., 1985; Kalayci et al., 1994), and some individuals with this deficiency are asymptomatic (Wolf et al., 1997).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66323">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_815883"><div><strong>Mitochondrial complex III deficiency nuclear type 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815883</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.">C3809553</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial complex III deficiency nuclear type 6 (MC3DN6) is an autosomal recessive disorder caused by mitochondrial dysfunction. It is characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection. Laboratory studies show decreased activity of mitochondrial complex III. Psychomotor development is normal (summary by Gaignard et al., 2013). For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (124000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815883">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_66323" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Biotinidase deficiency</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_815883" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex III deficiency nuclear type 6</a></div></div>
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||
</div>
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<div class="portlet mgSection" id="ID_105">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37419787">Management of diabetic ketoacidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barski L,
|
||
Golbets E,
|
||
Jotkowitz A,
|
||
Schwarzfuchs D</span><br />
|
||
<span class="medgenPMjournal">Eur J Intern Med</span>
|
||
2023 Nov;117:38-44.
|
||
Epub 2023 Jul 5
|
||
doi: 10.1016/j.ejim.2023.07.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37419787" target="_blank">37419787</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33626481">Euglycemic diabetic ketoacidosis: Etiologies, evaluation, and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Long B,
|
||
Lentz S,
|
||
Koyfman A,
|
||
Gottlieb M</span><br />
|
||
<span class="medgenPMjournal">Am J Emerg Med</span>
|
||
2021 Jun;44:157-160.
|
||
Epub 2021 Feb 16
|
||
doi: 10.1016/j.ajem.2021.02.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33626481" target="_blank">33626481</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28372715">Management of Hyperglycemic Crises: Diabetic Ketoacidosis and Hyperglycemic Hyperosmolar State.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fayfman M,
|
||
Pasquel FJ,
|
||
Umpierrez GE</span><br />
|
||
<span class="medgenPMjournal">Med Clin North Am</span>
|
||
2017 May;101(3):587-606.
|
||
doi: 10.1016/j.mcna.2016.12.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28372715" target="_blank">28372715</a><a href="/pmc/articles/PMC6535398" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(metabolic%20ketoacidosis)%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 (901)</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/37271067">Defining Physiological Ketosis Following Very-Low-Calorie Diets.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mollah T,
|
||
Gillespie C,
|
||
Cocco A,
|
||
Taylor L,
|
||
Chong L,
|
||
Hii MW</span><br />
|
||
<span class="medgenPMjournal">J Surg Res</span>
|
||
2023 Oct;290:197-202.
|
||
Epub 2023 Jun 2
|
||
doi: 10.1016/j.jss.2023.05.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37271067" target="_blank">37271067</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34134652">Euglycaemic ketoacidosis in pregnant women with COVID-19: two case reports.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pikovsky M,
|
||
Tan MY,
|
||
Ahmed A,
|
||
Sykes L,
|
||
Agha-Jaffar R,
|
||
Yu CKH</span><br />
|
||
<span class="medgenPMjournal">BMC Pregnancy Childbirth</span>
|
||
2021 Jun 16;21(1):427.
|
||
doi: 10.1186/s12884-021-03928-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34134652" target="_blank">34134652</a><a href="/pmc/articles/PMC8207493" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30653152">Ketoacidosis with euglycemia in a patient with type 2 diabetes mellitus taking dapagliflozin: A case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yeo SM,
|
||
Park H,
|
||
Paek JH,
|
||
Park WY,
|
||
Han S,
|
||
Park SB,
|
||
Jin K</span><br />
|
||
<span class="medgenPMjournal">Medicine (Baltimore)</span>
|
||
2019 Jan;98(3):e14150.
|
||
doi: 10.1097/MD.0000000000014150.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30653152" target="_blank">30653152</a><a href="/pmc/articles/PMC6370067" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28689740">Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grünert SC,
|
||
Schmitt RN,
|
||
Schlatter SM,
|
||
Gemperle-Britschgi C,
|
||
Balcı MC,
|
||
Berg V,
|
||
Çoker M,
|
||
Das AM,
|
||
Demirkol M,
|
||
Derks TGJ,
|
||
Gökçay G,
|
||
Uçar SK,
|
||
Konstantopoulou V,
|
||
Christoph Korenke G,
|
||
Lotz-Havla AS,
|
||
Schlune A,
|
||
Staufner C,
|
||
Tran C,
|
||
Visser G,
|
||
Schwab KO,
|
||
Fukao T,
|
||
Sass JO</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2017 Sep;122(1-2):67-75.
|
||
Epub 2017 Jun 27
|
||
doi: 10.1016/j.ymgme.2017.06.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28689740" target="_blank">28689740</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3767321">Bilateral lucency of the globus pallidus complicating methylmalonic acidemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Korf B,
|
||
Wallman JK,
|
||
Levy HL</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
1986 Sep;20(3):364-6.
|
||
doi: 10.1002/ana.410200317.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3767321" target="_blank">3767321</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Metabolic%20ketoacidosis%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 (6)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37271067">Defining Physiological Ketosis Following Very-Low-Calorie Diets.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mollah T,
|
||
Gillespie C,
|
||
Cocco A,
|
||
Taylor L,
|
||
Chong L,
|
||
Hii MW</span><br />
|
||
<span class="medgenPMjournal">J Surg Res</span>
|
||
2023 Oct;290:197-202.
|
||
Epub 2023 Jun 2
|
||
doi: 10.1016/j.jss.2023.05.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37271067" target="_blank">37271067</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36305448">Persistent moderate methylmalonic aciduria in a patient with methylmalonyl CoA epimerase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yazıcı H,
|
||
Canda E,
|
||
Onay H,
|
||
Uçar SK,
|
||
Habif S,
|
||
Çoker M</span><br />
|
||
<span class="medgenPMjournal">Turk J Pediatr</span>
|
||
2022;64(5):946-950.
|
||
doi: 10.24953/turkjped.2021.245.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36305448" target="_blank">36305448</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33875510">Severe metabolic ketoacidosis as a primary manifestation of SARS-CoV-2 infection in non-diabetic pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Amesfoort JE,
|
||
Werter DE,
|
||
Painter RC,
|
||
Hermans FJR</span><br />
|
||
<span class="medgenPMjournal">BMJ Case Rep</span>
|
||
2021 Apr 19;14(4)
|
||
doi: 10.1136/bcr-2021-241745.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33875510" target="_blank">33875510</a><a href="/pmc/articles/PMC8057576" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10653324">Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sakamoto O,
|
||
Suzuki Y,
|
||
Li X,
|
||
Aoki Y,
|
||
Hiratsuka M,
|
||
Holme E,
|
||
Kudoh J,
|
||
Shimizu N,
|
||
Narisawa K</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2000 Jan-Feb;159(1-2):18-22.
|
||
doi: 10.1007/s004310050004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10653324" target="_blank">10653324</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3312391">Alcoholic ketoacidosis--a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Duffens K,
|
||
Marx JA</span><br />
|
||
<span class="medgenPMjournal">J Emerg Med</span>
|
||
1987 Sep-Oct;5(5):399-406.
|
||
doi: 10.1016/0736-4679(87)90146-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3312391" target="_blank">3312391</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Metabolic%20ketoacidosis%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 (18)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37271067">Defining Physiological Ketosis Following Very-Low-Calorie Diets.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mollah T,
|
||
Gillespie C,
|
||
Cocco A,
|
||
Taylor L,
|
||
Chong L,
|
||
Hii MW</span><br />
|
||
<span class="medgenPMjournal">J Surg Res</span>
|
||
2023 Oct;290:197-202.
|
||
Epub 2023 Jun 2
|
||
doi: 10.1016/j.jss.2023.05.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37271067" target="_blank">37271067</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29099159">‘Euglycemic’ Ketoacidosis in a Patient With Type 2 Diabetes Being Treated With Canagliflozin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Danford C,
|
||
Chan P,
|
||
Magill SB</span><br />
|
||
<span class="medgenPMjournal">WMJ</span>
|
||
2016 Aug;115(4):206-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29099159" target="_blank">29099159</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10653324">Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sakamoto O,
|
||
Suzuki Y,
|
||
Li X,
|
||
Aoki Y,
|
||
Hiratsuka M,
|
||
Holme E,
|
||
Kudoh J,
|
||
Shimizu N,
|
||
Narisawa K</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2000 Jan-Feb;159(1-2):18-22.
|
||
doi: 10.1007/s004310050004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10653324" target="_blank">10653324</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3312391">Alcoholic ketoacidosis--a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Duffens K,
|
||
Marx JA</span><br />
|
||
<span class="medgenPMjournal">J Emerg Med</span>
|
||
1987 Sep-Oct;5(5):399-406.
|
||
doi: 10.1016/0736-4679(87)90146-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3312391" target="_blank">3312391</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3767321">Bilateral lucency of the globus pallidus complicating methylmalonic acidemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Korf B,
|
||
Wallman JK,
|
||
Levy HL</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
1986 Sep;20(3):364-6.
|
||
doi: 10.1002/ana.410200317.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3767321" target="_blank">3767321</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Metabolic%20ketoacidosis%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 (14)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32727382">Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zheng Z,
|
||
Yuan G,
|
||
Zheng M,
|
||
Lin Y,
|
||
Zheng F,
|
||
Jiang M,
|
||
Zhu L,
|
||
Fu Q</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genet</span>
|
||
2020 Jul 29;21(1):155.
|
||
doi: 10.1186/s12881-020-01080-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32727382" target="_blank">32727382</a><a href="/pmc/articles/PMC7388215" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31141143">Early Detection of Diabetic Ketoacidosis by Breathalyzer in a Sailor Reporting for Duty.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reinhart J</span><br />
|
||
<span class="medgenPMjournal">Mil Med</span>
|
||
2019 Dec 1;184(11-12):e951-e952.
|
||
doi: 10.1093/milmed/usz127.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31141143" target="_blank">31141143</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28689740">Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grünert SC,
|
||
Schmitt RN,
|
||
Schlatter SM,
|
||
Gemperle-Britschgi C,
|
||
Balcı MC,
|
||
Berg V,
|
||
Çoker M,
|
||
Das AM,
|
||
Demirkol M,
|
||
Derks TGJ,
|
||
Gökçay G,
|
||
Uçar SK,
|
||
Konstantopoulou V,
|
||
Christoph Korenke G,
|
||
Lotz-Havla AS,
|
||
Schlune A,
|
||
Staufner C,
|
||
Tran C,
|
||
Visser G,
|
||
Schwab KO,
|
||
Fukao T,
|
||
Sass JO</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2017 Sep;122(1-2):67-75.
|
||
Epub 2017 Jun 27
|
||
doi: 10.1016/j.ymgme.2017.06.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28689740" target="_blank">28689740</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11685586">Kidney transplantation in a girl with methylmalonic acidemia and end stage renal failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lubrano R,
|
||
Scoppi P,
|
||
Barsotti P,
|
||
Travasso E,
|
||
Scateni S,
|
||
Cristaldi S,
|
||
Castello MA</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2001 Nov;16(11):848-51.
|
||
doi: 10.1007/s004670100688.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11685586" target="_blank">11685586</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Metabolic%20ketoacidosis%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 (4)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32727382">Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zheng Z,
|
||
Yuan G,
|
||
Zheng M,
|
||
Lin Y,
|
||
Zheng F,
|
||
Jiang M,
|
||
Zhu L,
|
||
Fu Q</span><br />
|
||
<span class="medgenPMjournal">BMC Med Genet</span>
|
||
2020 Jul 29;21(1):155.
|
||
doi: 10.1186/s12881-020-01080-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32727382" target="_blank">32727382</a><a href="/pmc/articles/PMC7388215" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7595310">Biotransformation of acetone to isopropanol observed in a motorist involved in a sobriety check.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jones AW,
|
||
Andersson L</span><br />
|
||
<span class="medgenPMjournal">J Forensic Sci</span>
|
||
1995 Jul;40(4):686-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7595310" target="_blank">7595310</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6787561">Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wolf B,
|
||
Hsia YE,
|
||
Sweetman L,
|
||
Feldman G,
|
||
Boychuk RB,
|
||
Bart RD,
|
||
Crowell DH,
|
||
Di Mauro RM,
|
||
Nyhan WL</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
1981 Jul;68(1):113-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6787561" target="_blank">6787561</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Metabolic%20ketoacidosis%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (3)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1854704%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (1)</a></li>
|
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