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<!--
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||
UID=1296
|
||
ConceptID=C0001122
|
||
-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Acidosis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1296</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.">C0001122</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Acidosis disorder</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Acidosis (51387008)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0001941">HP:0001941</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0006022" target="_blank">MONDO:0006022</a></td></tr>
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Abnormal acid accumulation or depletion of base. [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>
|
||
<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=C0001122[DISCUI]&test_type=Clinical" ref="ncbi_uid=1296">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">Acidosis</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/868551" ref="tree=MeSH" title="MedGen record for Abnormal homeostasis">Abnormal homeostasis</a></span><ul><li><span class="TLline"><a href="/medgen/7851" ref="tree=MeSH" title="MedGen record for Abnormality of acid-base homeostasis">Abnormality of acid-base homeostasis</a></span><ul><li><span class="matched_ds">Acidosis</span><ul><li><span class="TLline"><a href="/medgen/760150" ref="tree=MeSH" title="MedGen record for Chronic acidosis">Chronic acidosis</a></span><ul><li><span class="TLline"><a href="/medgen/374224" ref="tree=MeSH" title="MedGen record for Chronic lactic acidosis">Chronic lactic acidosis</a></span></li><li><span class="TLline"><a href="/medgen/488930" ref="tree=MeSH" title="MedGen record for Chronic metabolic acidosis">Chronic metabolic acidosis</a></span></li><li><span class="TLline"><a href="/medgen/541160" ref="tree=MeSH" title="MedGen record for Chronic respiratory acidosis">Chronic respiratory acidosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/43207" ref="tree=MeSH" title="MedGen record for Hyperchloremic acidosis">Hyperchloremic acidosis</a></span><ul><li><span class="TLline"><a href="/medgen/369924" ref="tree=MeSH" title="MedGen record for Hyperchloremic metabolic acidosis">Hyperchloremic metabolic acidosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/332209" ref="tree=MeSH" title="MedGen record for Increased circulating lactate concentration">Increased circulating lactate concentration</a></span><ul><li><span class="TLline"><a href="/medgen/868686" ref="tree=MeSH" title="MedGen record for Postprandial hyperlactemia">Postprandial hyperlactemia</a></span></li></ul></li><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/8351" ref="tree=MeSH" title="MedGen record for Diabetic ketoacidosis">Diabetic ketoacidosis</a></span></li><li><span class="TLline"><a href="/medgen/66722" ref="tree=MeSH" title="MedGen record for Hyperketonemia">Hyperketonemia</a></span><ul><li><span class="TLline"><a href="/medgen/1781355" ref="tree=MeSH" title="MedGen record for Elevated circulating acetoacetic acid concentration">Elevated circulating acetoacetic acid concentration</a></span></li><li><span class="TLline"><a href="/medgen/1780247" ref="tree=MeSH" title="MedGen record for Elevated circulating acetone concentration">Elevated circulating acetone concentration</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/67434" ref="tree=MeSH" title="MedGen record for Ketoacidosis">Ketoacidosis</a></span><ul><li><span class="TLline"><a href="/medgen/349256" ref="tree=MeSH" title="MedGen record for Episodic ketoacidosis">Episodic ketoacidosis</a></span></li><li><span class="TLline"><a href="/medgen/381478" ref="tree=MeSH" title="MedGen record for Metabolic ketoacidosis">Metabolic ketoacidosis</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1717" ref="tree=MeSH" title="MedGen record for Lactic acidosis">Lactic acidosis</a></span><ul><li><span class="TLline"><a href="/medgen/870818" ref="tree=MeSH" title="MedGen record for Congenital lactic acidosis">Congenital lactic acidosis</a></span></li><li><span class="TLline"><a href="/medgen/870819" ref="tree=MeSH" title="MedGen record for Exercise-induced lactic acidemia">Exercise-induced lactic acidemia</a></span></li><li><span class="TLline"><a href="/medgen/336814" ref="tree=MeSH" title="MedGen record for Intermittent lactic acidemia">Intermittent lactic acidemia</a></span></li><li><span class="TLline"><a href="/medgen/767452" ref="tree=MeSH" title="MedGen record for Persistent lactic acidosis">Persistent lactic acidosis</a></span></li><li><span class="TLline"><a href="/medgen/374223" ref="tree=MeSH" title="MedGen record for Severe lactic acidosis">Severe lactic acidosis</a></span></li><li><span class="TLline"><a href="/medgen/870820" ref="tree=MeSH" title="MedGen record for Stress/infection-induced lactic acidosis">Stress/infection-induced lactic acidosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/65117" ref="tree=MeSH" title="MedGen record for Metabolic acidosis">Metabolic acidosis</a></span><ul><li><span class="TLline"><a href="/medgen/349179" ref="tree=MeSH" title="MedGen record for Episodic metabolic acidosis">Episodic metabolic acidosis</a></span></li><li><span class="TLline"><a href="/medgen/593455" ref="tree=MeSH" title="MedGen record for Fetal acidosis">Fetal acidosis</a></span></li><li><span class="TLline"><a href="/medgen/356106" ref="tree=MeSH" title="MedGen record for Hyperkalemic metabolic acidosis">Hyperkalemic metabolic acidosis</a></span></li><li><span class="TLline"><a href="/medgen/333546" ref="tree=MeSH" title="MedGen record for Mixed respiratory and metabolic acidosis">Mixed respiratory and metabolic acidosis</a></span></li><li><span class="TLline"><a href="/medgen/90" ref="tree=MeSH" title="MedGen record for Renal tubular acidosis">Renal tubular acidosis</a></span><ul><li><span class="TLline"><a href="/medgen/347681" ref="tree=MeSH" title="MedGen record for Bicarbonate-wasting renal tubular acidosis">Bicarbonate-wasting renal tubular acidosis</a></span></li><li><span class="TLline"><a href="/medgen/853429" ref="tree=MeSH" title="MedGen record for Distal renal tubular acidosis">Distal renal tubular acidosis</a></span></li><li><span class="TLline"><a href="/medgen/82804" ref="tree=MeSH" title="MedGen record for Proximal renal tubular acidosis">Proximal renal tubular acidosis</a></span></li><li><span class="TLline"><a href="/medgen/885579" ref="tree=MeSH" title="MedGen record for Renal Tubular Acidosis Associated With Deafness">Renal Tubular Acidosis Associated With Deafness</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/91" ref="tree=MeSH" title="MedGen record for Respiratory acidosis">Respiratory acidosis</a></span><ul><li><span class="TLline"><a href="/medgen/541159" ref="tree=MeSH" title="MedGen record for Acute respiratory acidosis">Acute respiratory acidosis</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</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>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_120640"><div><strong>Primary hypomagnesemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120640</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.">C0268448</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a progressive renal disorder characterized by excessive urinary Ca(2+) and Mg(2+) excretion. There is progressive loss of kidney function, and in about 50% of cases, the need for renal replacement therapy arises as early as the second decade of life (summary by Muller et al., 2006). Amelogenesis imperfecta may also be present in some patients (Bardet et al., 2016). A similar disorder with renal magnesium wasting, renal failure, and nephrocalcinosis (HOMG5; 248190) is caused by mutations in another tight-junction gene, CLDN19 (610036), and is distinguished by the association of severe ocular involvement. For a discussion of phenotypic and genetic heterogeneity of familial hypomagnesemia, see HOMG1 (602014).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120640">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_75696"><div><strong>Multiple acyl-CoA dehydrogenase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>75696</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.">C0268596</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multiple acyl-CoA dehydrogenase deficiency (MADD) represents a clinical spectrum in which presentations can be divided into type I (neonatal onset with congenital anomalies), type II (neonatal onset without congenital anomalies), and type III (late onset). Individuals with type I or II MADD typically become symptomatic in the neonatal period with severe metabolic acidosis, which may be accompanied by profound hypoglycemia and hyperammonemia. Many affected individuals die in the newborn period despite metabolic treatment. In those who survive the neonatal period, recurrent metabolic decompensation resembling Reye syndrome and the development of hypertrophic cardiomyopathy can occur. Congenital anomalies may include dysmorphic facial features, large cystic kidneys, hypospadias and chordee in males, and neuronal migration defects (heterotopias) on brain MRI. Individuals with type III MADD, the most common presentation, can present from infancy to adulthood. The most common symptoms are muscle weakness, exercise intolerance, and/or muscle pain, although metabolic decompensation with episodes of rhabdomyolysis can also be seen. Rarely, individuals with late-onset MADD (type III) may develop severe sensory neuropathy in addition to proximal myopathy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/75696">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_98017"><div><strong>Glomerulopathy with fibronectin deposits 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98017</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.">C0403557</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Glomerulopathy with fibronectin deposits (GFND) is a genetically heterogeneous autosomal dominant disorder characterized clinically by proteinuria, microscopic hematuria, and hypertension that leads to end-stage renal failure in the second to fifth decade of life. Pathologic examination shows enlarged glomeruli with mesangial and subendothelial fibrillary deposits that show strong immunoreactivity to fibronectin (FN1; 135600) (Castelletti et al., 2008). Genetic Heterogeneity of Glomerulopathy with Fibronectin Deposits The GFND1 locus maps to chromosome 1q32. See also GFND2 (601894), which is caused by mutation in the FN1 gene (135600) on chromosome 2q35.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98017">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_324944"><div><strong>Malignant hyperthermia, susceptibility to, 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>324944</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.">C1838102</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Malignant hyperthermia susceptibility (MHS) is a pharmacogenetic disorder of skeletal muscle calcium regulation associated with uncontrolled skeletal muscle hypermetabolism. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). The triggering substances cause uncontrolled release of calcium from the sarcoplasmic reticulum and may promote entry of extracellular calcium into the myoplasm, causing contracture of skeletal muscles, glycogenolysis, and increased cellular metabolism, resulting in production of heat and excess lactate. Affected individuals experience acidosis, hypercapnia, tachycardia, hyperthermia, muscle rigidity, compartment syndrome, rhabdomyolysis with subsequent increase in serum creatine kinase (CK) concentration, hyperkalemia with a risk for cardiac arrhythmia or even cardiac arrest, and myoglobinuria with a risk for renal failure. In nearly all cases, the first manifestations of MH (tachycardia and tachypnea) occur in the operating room; however, MH may also occur in the early postoperative period. There is mounting evidence that some individuals with MHS will also develop MH with exercise and/or on exposure to hot environments. Without proper and prompt treatment with dantrolene sodium, mortality is extremely high.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/324944">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_340962"><div><strong>Vici syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340962</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.">C1855772</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">With the current widespread use of multigene panels and comprehensive genomic testing, it has become apparent that the phenotypic spectrum of EPG5-related disorder represents a continuum. At the most severe end of the spectrum is classic Vici syndrome (defined as a neurodevelopmental disorder with multisystem involvement characterized by the combination of agenesis of the corpus callosum, cataracts, hypopigmentation, cardiomyopathy, combined immunodeficiency, microcephaly, and failure to thrive); at the milder end of the spectrum are attenuated neurodevelopmental phenotypes with variable multisystem involvement. Median survival in classic Vici syndrome appears to be 24 months, with only 10% of children surviving longer than age five years; the most common causes of death are respiratory infections as a result of primary immunodeficiency and/or cardiac insufficiency resulting from progressive cardiac failure. No data are available on life span in individuals at the milder end of the spectrum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340962">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347955"><div><strong>Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347955</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.">C1859818</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347955">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_501176"><div><strong>Fanconi-Bickel syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>501176</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.">C3495427</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Fanconi-Bickel syndrome is a rare but well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose (Manz et al., 1987). Because no underlying enzymatic defect in carbohydrate metabolism had been identified and because metabolism of both glucose and galactose is impaired, a primary defect of monosaccharide transport across the membranes had been suggested (Berry et al., 1995; Fellers et al., 1967; Manz et al., 1987; Odievre, 1966). Use of the term glycogenosis type XI introduced by Hug (1987) is to be discouraged because glycogen accumulation is not due to the proposed functional defect of phosphoglucomutase, an essential enzyme in the common degradative pathways of both glycogen and galactose, but is secondary to nonfunctional glucose transport.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/501176">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648370"><div><strong>Mitochondrial complex 1 deficiency, nuclear type 13</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648370</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.">C4748770</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648370">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1684823"><div><strong>Mitochondrial DNA depletion syndrome 17</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1684823</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.">C5231412</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial depletion syndrome-17 (MTDPS17) is an autosomal recessive dystonic or movement disorder (summary by Shafique et al., 2023). For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (603041).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1684823">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1785163"><div><strong>Hypokalemic tubulopathy and deafness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1785163</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.">C5543621</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypokalemic tubulopathy and deafness (HKTD) is an autosomal recessive disorder characterized by hypokalemic tubulopathy with renal salt wasting, disturbed acid-base homeostasis, and sensorineural deafness (Schlingmann et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1785163">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347955" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_501176" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fanconi-Bickel syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98017" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glomerulopathy with fibronectin deposits 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1785163" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypokalemic tubulopathy and deafness</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_324944" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Malignant hyperthermia, susceptibility to, 4</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (10)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648370" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial complex 1 deficiency, nuclear type 13</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1684823" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 17</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_75696" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multiple acyl-CoA dehydrogenase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120640" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Primary hypomagnesemia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340962" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vici syndrome</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/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/31573641">Chronic Kidney Disease Diagnosis and Management: A Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen TK,
|
||
Knicely DH,
|
||
Grams ME</span><br />
|
||
<span class="medgenPMjournal">JAMA</span>
|
||
2019 Oct 1;322(13):1294-1304.
|
||
doi: 10.1001/jama.2019.14745.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31573641" target="_blank">31573641</a><a href="/pmc/articles/PMC7015670" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20308999">Metabolic acidosis: pathophysiology, diagnosis and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kraut JA,
|
||
Madias NE</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Nephrol</span>
|
||
2010 May;6(5):274-85.
|
||
Epub 2010 Mar 23
|
||
doi: 10.1038/nrneph.2010.33.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20308999" target="_blank">20308999</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22acidosis%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 (1031)</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/35955455">Metformin: When Should We Fear Lactic Acidosis?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Di Mauro S,
|
||
Filippello A,
|
||
Scamporrino A,
|
||
Purrello F,
|
||
Piro S,
|
||
Malaguarnera R</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2022 Jul 28;23(15)
|
||
doi: 10.3390/ijms23158320.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35955455" target="_blank">35955455</a><a href="/pmc/articles/PMC9368510" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32591997">Renal Tubular Acidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bagga A,
|
||
Sinha A</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2020 Sep;87(9):733-744.
|
||
Epub 2020 Jun 26
|
||
doi: 10.1007/s12098-020-03318-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32591997" target="_blank">32591997</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30454739">Renal Tubular Acidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alexander RT,
|
||
Bitzan M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2019 Feb;66(1):135-157.
|
||
doi: 10.1016/j.pcl.2018.08.011.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30454739" target="_blank">30454739</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26773926">Metformin-associated lactic acidosis: Current perspectives on causes and risk.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DeFronzo R,
|
||
Fleming GA,
|
||
Chen K,
|
||
Bicsak TA</span><br />
|
||
<span class="medgenPMjournal">Metabolism</span>
|
||
2016 Feb;65(2):20-9.
|
||
Epub 2015 Oct 9
|
||
doi: 10.1016/j.metabol.2015.10.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26773926" target="_blank">26773926</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/20308999">Metabolic acidosis: pathophysiology, diagnosis and management.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kraut JA,
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<span class="bold">PMID: </span><a href="/pubmed/20308999" target="_blank">20308999</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Acidosis%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 (8570)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="portlet_content ln"><span class="medgenPMauthor">Palmer BF,
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<div class="portlet_content ln"><span class="medgenPMauthor">Alexander RT,
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<div class="nl"><a target="_blank" href="/pubmed/20308999">Metabolic acidosis: pathophysiology, diagnosis and management.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Kraut JA,
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Madias NE</span><br />
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2010 May;6(5):274-85.
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<div class="nl"><a target="_blank" href="/pubmed/29910040">Sodium bicarbonate therapy for patients with severe metabolic acidaemia in the intensive care unit (BICAR-ICU): a multicentre, open-label, randomised controlled, phase 3 trial.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/27338594">Diet-induced acidosis and alkali supplementation.</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Acidosis%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 (10459)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/33459616">Medical management of urolithiasis.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23999233">How to use lactate.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/23999233" target="_blank">23999233</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/17077266">ACOG Committee Opinion No. 348, November 2006: Umbilical cord blood gas and acid-base analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">ACOG Committee on Obstetric Practice</span><br />
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Acidosis%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 (5946)</a></div></div>
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</div>
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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">
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<div class="nl"><a target="_blank" href="/pubmed/35358905">Balanced electrolyte solutions versus isotonic saline in adult patients with diabetic ketoacidosis: A systematic review and meta-analysis.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Catahay JA,
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Polintan ET,
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Casimiro M,
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Notarte KI,
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Velasco JV,
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Ver AT,
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Pastrana A,
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Macaranas I,
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Patarroyo-Aponte G,
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Lo KB</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/35358905" target="_blank">35358905</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/32663831">Etiology and Management of Acute Metabolic Acidosis: An Update.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Matyukhin I,
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Patschan S,
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Ritter O,
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<span class="bold">PMID: </span><a href="/pubmed/32663831" target="_blank">32663831</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/31361914">Medication-Induced Hyperlactatemia and Lactic Acidosis: A Systematic Review of the Literature.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Smith ZR,
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Horng M,
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<span class="medgenPMjournal">Pharmacotherapy</span>
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<div class="nl"><a target="_blank" href="/pubmed/28439845">A Systematic Review of the Clinical Presentation, Diagnosis, and Treatment of Small Bowel Obstruction.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/28439845" target="_blank">28439845</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/20586571">Colchicine poisoning: the dark side of an ancient drug.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Finkelstein Y,
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Aks SE,
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Hutson JR,
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Juurlink DN,
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Nguyen P,
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Dubnov-Raz G,
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Pollak U,
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<span class="bold">PMID: </span><a href="/pubmed/20586571" target="_blank">20586571</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Acidosis%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 (257)</a></div></div>
|
||
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|
||
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|
||
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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