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1217 lines
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115 KiB
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<!--
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||
UID=66037
|
||
ConceptID=C0241775
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Inborn organic aciduria</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66037</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.">C0241775</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Inherited organic acidemia; Organic aciduria</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:0001992">HP:0001992</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
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<td><a href="https://monarchinitiative.org/disease/MONDO:0000688" target="_blank">MONDO:0000688</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">Excretion of non-amino organic acids in 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=C0241775[DISCUI]&test_type=Clinical" ref="ncbi_uid=66037">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">Inborn organic aciduria</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/52948" ref="tree=MeSH" title="MedGen record for Abnormality of the genitourinary system">Abnormality of the genitourinary system</a></span><ul><li><span class="TLline"><a href="/medgen/867444" ref="tree=MeSH" title="MedGen record for Abnormality of the urinary system">Abnormality of the urinary system</a></span><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/1716739" ref="tree=MeSH" title="MedGen record for Abnormal urine pH">Abnormal urine pH</a></span><ul><li><span class="TLline"><a href="/medgen/488840" ref="tree=MeSH" title="MedGen record for Aciduria">Aciduria</a></span><ul><li><span class="matched_ds">Inborn organic aciduria</span><ul><li><span class="TLline"><a href="/medgen/1746334" ref="tree=MeSH" title="MedGen record for 3-hydroxyisovaleric aciduria">3-hydroxyisovaleric aciduria</a></span></li><li><span class="TLline"><a href="/medgen/463303" ref="tree=MeSH" title="MedGen record for Complex organic aciduria">Complex organic aciduria</a></span></li><li><span class="TLline"><a href="/medgen/1864007" ref="tree=MeSH" title="MedGen record for Elevated urinary isovaleric acid level">Elevated urinary isovaleric acid level</a></span></li><li><span class="TLline"><a href="/medgen/1052837" ref="tree=MeSH" title="MedGen record for Elevated urine dodecanedioic acid level">Elevated urine dodecanedioic acid level</a></span></li><li><span class="TLline"><a href="/medgen/43782" ref="tree=MeSH" title="MedGen record for Hyperoxaluria">Hyperoxaluria</a></span><ul><li><span class="TLline"><a href="/medgen/5697" ref="tree=MeSH" title="MedGen record for Primary hyperoxaluria">Primary hyperoxaluria</a></span><ul><li><span class="TLline"><a href="/medgen/462228" ref="tree=MeSH" title="MedGen record for Primary hyperoxaluria type 3">Primary hyperoxaluria type 3</a></span></li><li><span class="TLline"><a href="/medgen/75658" ref="tree=MeSH" title="MedGen record for Primary hyperoxaluria, type I">Primary hyperoxaluria, type I</a></span></li><li><span class="TLline"><a href="/medgen/120616" ref="tree=MeSH" title="MedGen record for Primary hyperoxaluria, type II">Primary hyperoxaluria, type II</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1052402" ref="tree=MeSH" title="MedGen record for Increased urine 4-hydroxy-2-oxoglutarate level">Increased urine 4-hydroxy-2-oxoglutarate level</a></span></li></ul></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">
|
||
<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_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_120653"><div><strong>Holocarboxylase synthetase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120653</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.">C0268581</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Holocarboxylase synthetase deficiency, a biotin-responsive multiple carboxylase deficiency (MCD), is characterized by metabolic acidosis, lethargy, hypotonia, convulsions, and dermatitis. Most patients present in the newborn or early infantile period, but some become symptomatic in the later infantile period (summary by Suzuki et al., 2005). Also see biotinidase deficiency (253260), another form of MCD with a later onset. Care must be taken to differentiate the inherited multiple carboxylase deficiencies from acquired biotin deficiencies, such as those that develop after excessive dietary intake of avidin, an egg-white glycoprotein that binds specifically and essentially irreversibly to biotin (Sweetman et al., 1981) or prolonged parenteral alimentation without supplemental biotin (Mock et al., 1981).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120653">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_78692"><div><strong>Deficiency of hydroxymethylglutaryl-CoA lyase</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78692</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.">C0268601</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) is a rare autosomal recessive disorder with the cardinal manifestations of metabolic acidosis without ketonuria, hypoglycemia, and a characteristic pattern of elevated urinary organic acid metabolites, including 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-hydroxyisovaleric acids. Urinary levels of 3-methylcrotonylglycine may be increased. Dicarboxylic aciduria, hepatomegaly, and hyperammonemia may also be observed. Presenting clinical signs include irritability, lethargy, coma, and vomiting (summary by Gibson et al., 1988).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/78692">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_96022"><div><strong>Leukocyte adhesion deficiency type II</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>96022</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.">C0398739</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital disorder of glycosylation type IIc (CDG2C) is an autosomal recessive disorder characterized by moderate to severe psychomotor retardation, mild dysmorphism, and impaired neutrophil motility. It is a member of a group of disorders with a defect in the processing of protein-bound glycans. For a general overview of congenital disorders of glycosylation (CDGs), see CDG1A (212065) and CDG2A (212066). Frydman (1996) contended that the neutrophil defect in CDG2C, which has been referred to as 'leukocyte adhesion deficiency type II' (LAD2), is a manifestation of the disorder and that there are no cases of 'primary' LAD II. Etzioni and Harlan (1999) provided a comprehensive review of both leukocyte adhesion deficiency-1 (LAD1; 116920) and LAD2. While the functional neutrophil studies are similar in the 2 LADs, the clinical course is milder in LAD2. Furthermore, patients with LAD2 present other abnormal features, such as growth and mental retardation, which are related to the primary defect in fucose metabolism. Delayed separation of the umbilical cord occurs in LAD1. For a discussion of genetic heterogeneity of LAD, see 116920.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/96022">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_335078"><div><strong>X-linked sideroblastic anemia with ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335078</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.">C1845028</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">X-linked spinocerebellar ataxia-6 with or without sideroblastic anemia (SCAX6) is an X-linked recessive disorder characterized by delayed motor development apparent in infancy with delayed walking (often by several years) due to ataxia and poor coordination. Additional features may include dysmetria, dysarthria, spasticity of the lower limbs, hyperreflexia, dysdiadochokinesis, strabismus, and nystagmus. The disorder is slowly progressive, and patients often lose ambulation. Brain imaging usually shows cerebellar atrophy. Most affected individuals have mild hypochromic, microcytic sideroblastic anemia, which may be asymptomatic. Laboratory studies show increased free erythrocyte protoporphyrin (FEP) and ringed sideroblasts on bone marrow biopsy. Female carriers do not have neurologic abnormalities, but may have subtle findings on peripheral blood smear (Pagon et al., 1985; D'Hooghe et al., 2012). For a discussion of genetic heterogeneity of X-linked spinocerebellar ataxia (SCAX), see SCAX1 (302500).</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/335078">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347898"><div><strong>3-methylcrotonyl-CoA carboxylase 2 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347898</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.">C1859499</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">3-Methylcrotonylglycinuria is an autosomal recessive disorder of leucine catabolism. The clinical phenotype is highly variable, ranging from neonatal onset with severe neurologic involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency. MCC activity in extracts of cultured fibroblasts of patients is usually less than 2% of control (summary by Baumgartner et al., 2001). Also see 3-methylcrotonylglycinuria I (MCC1D; 210200), caused by mutation in the alpha subunit of 3-methylcrotonyl-CoA carboxylase (MCCC1; 609010).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347898">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_436367"><div><strong>Arginine:glycine amidinotransferase deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436367</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.">C2675179</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The creatine deficiency disorders (CDDs), inborn errors of creatine metabolism and transport, comprise three disorders: the creatine biosynthesis disorders guanidinoacetate methyltransferase (GAMT) deficiency and L-arginine:glycine amidinotransferase (AGAT) deficiency; and creatine transporter (CRTR) deficiency. Developmental delay and cognitive dysfunction or intellectual disability and speech-language disorder are common to all three CDDs. Onset of clinical manifestations of GAMT deficiency (reported in ~130 individuals) is between ages three months and two years; in addition to developmental delays, the majority of individuals have epilepsy and develop a behavior disorder (e.g., hyperactivity, autism, or self-injurious behavior), and about 30% have movement disorder. AGAT deficiency has been reported in 16 individuals; none have had epilepsy or movement disorders. Clinical findings of CRTR deficiency in affected males (reported in ~130 individuals) in addition to developmental delays include epilepsy (variable seizure types and may be intractable) and behavior disorders (e.g., attention deficit and/or hyperactivity, autistic features, impulsivity, social anxiety), hypotonia, and (less commonly) a movement disorder. Poor weight gain with constipation and prolonged QTc on EKG have been reported. While mild-to-moderate intellectual disability is commonly observed up to age four years, the majority of adult males with CRTR deficiency have been reported to have severe intellectual disability. Females heterozygous for CRTR deficiency are typically either asymptomatic or have mild intellectual disability, although a more severe phenotype resembling the male phenotype has been reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/436367">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766452"><div><strong>Brown-Vialetto-van Laere syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766452</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.">C3553538</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Brown-Vialetto-Van Laere syndrome-2 (BVVLS2) is an autosomal recessive progressive neurologic disorder characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency. Some patients may lose independent ambulation. Because it results from a defect in riboflavin metabolism, some patients may benefit from high-dose riboflavin supplementation (summary by Johnson et al., 2012; Foley et al., 2014). For discussion of genetic heterogeneity of Brown-Vialetto-Van Laere syndrome, see BVVLS1 (211530).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766452">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_766521"><div><strong>Mitochondrial pyruvate carrier deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766521</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.">C3553607</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Mitochondrial pyruvate carrier deficiency is an autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation (summary by Bricker et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/766521">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934643"><div><strong>Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934643</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.">C4310676</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">MTDPS12A is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth. Affected infants have respiratory insufficiency requiring mechanical ventilation and have poor or no motor development. Many die in infancy, and those that survive have profound hypotonia with significant muscle weakness and inability to walk independently. Some patients develop hypertrophic cardiomyopathy. Muscle samples show mtDNA depletion and severe combined mitochondrial respiratory chain deficiencies (summary by Thompson et al., 2016). For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (603041).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934643">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934789"><div><strong>Myopathy with abnormal lipid metabolism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934789</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.">C4310822</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lipid storage myopathy due to FLAD1 deficiency is an autosomal recessive inborn error of metabolism that includes variable mitochondrial dysfunction. The phenotype is extremely heterogeneous: some patients have a severe disorder with onset in infancy and cardiac and respiratory insufficiency resulting in early death, whereas others have a milder course with onset of muscle weakness in adulthood. Some patients show significant improvement with riboflavin treatment (summary by Olsen et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934789">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1806598"><div><strong>Combined oxidative phosphorylation deficiency 55</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1806598</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.">C5676915</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Combined oxidative phosphorylation deficiency-55 (COXPD55) is characterized by global developmental delay, hypotonia, short stature, and impaired intellectual development with speech disabilities in childhood. Indolent progressive external ophthalmoplegia phenotype has been described in 1 patient (summary by Olahova et al., 2021). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1806598">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1824058"><div><strong>Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824058</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.">C5774285</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities (NEDHFS) is an autosomal recessive disorder characterized by severe global developmental delay with impaired intellectual development and poor or absent speech. Affected individuals have dysmorphic facies, including large abnormally shaped ears and strabismus, hypotonia, and dry skin with keratosis pilaris. Some patients develop seizures. Metabolic studies are unremarkable (Morava et al., 2021).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1824058">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347898" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">3-methylcrotonyl-CoA carboxylase 2 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_436367" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Arginine:glycine amidinotransferase deficiency</a></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_766452" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brown-Vialetto-van Laere syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1806598" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Combined oxidative phosphorylation deficiency 55</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (13)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78692" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Deficiency of hydroxymethylglutaryl-CoA lyase</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120653" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Holocarboxylase synthetase deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_96022" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukocyte adhesion deficiency type II</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934643" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_766521" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mitochondrial pyruvate carrier deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934789" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopathy with abnormal lipid metabolism</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824058" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_335078" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">X-linked sideroblastic anemia with ataxia</a></div></span></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29335813">Organic acidurias in adults: late complications and management.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Tuncel AT,
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Boy N,
|
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Morath MA,
|
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Hörster F,
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Mütze U,
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||
Kölker S</span><br />
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<span class="medgenPMjournal">J Inherit Metab Dis</span>
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2018 Sep;41(5):765-776.
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Epub 2018 Jan 15
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doi: 10.1007/s10545-017-0135-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29335813" target="_blank">29335813</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29262333">Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">An D,
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Schneller JL,
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Frassetto A,
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Liang S,
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Zhu X,
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Park JS,
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Theisen M,
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Hong SJ,
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Zhou J,
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Rajendran R,
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Levy B,
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Howell R,
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Besin G,
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Presnyak V,
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Sabnis S,
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Murphy-Benenato KE,
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Kumarasinghe ES,
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Salerno T,
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Mihai C,
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Lukacs CM,
|
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Chandler RJ,
|
||
Guey LT,
|
||
Venditti CP,
|
||
Martini PGV</span><br />
|
||
<span class="medgenPMjournal">Cell Rep</span>
|
||
2017 Dec 19;21(12):3548-3558.
|
||
doi: 10.1016/j.celrep.2017.11.081.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29262333" target="_blank">29262333</a><a href="/pmc/articles/PMC9667413" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15293040">Pathophysiology, diagnosis, and treatment of methylmalonic aciduria-recent advances and new challenges.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hörster F,
|
||
Hoffmann GF</span><br />
|
||
<span class="medgenPMjournal">Pediatr Nephrol</span>
|
||
2004 Oct;19(10):1071-4.
|
||
Epub 2004 Aug 4
|
||
doi: 10.1007/s00467-004-1572-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15293040" target="_blank">15293040</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(inborn%20organic%20aciduria)%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 (63)</a></div></div>
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</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/36221165">Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boy N,
|
||
Mühlhausen C,
|
||
Maier EM,
|
||
Ballhausen D,
|
||
Baumgartner MR,
|
||
Beblo S,
|
||
Burgard P,
|
||
Chapman KA,
|
||
Dobbelaere D,
|
||
Heringer-Seifert J,
|
||
Fleissner S,
|
||
Grohmann-Held K,
|
||
Hahn G,
|
||
Harting I,
|
||
Hoffmann GF,
|
||
Jochum F,
|
||
Karall D,
|
||
Konstantopoulous V,
|
||
Krawinkel MB,
|
||
Lindner M,
|
||
Märtner EMC,
|
||
Nuoffer JM,
|
||
Okun JG,
|
||
Plecko B,
|
||
Posset R,
|
||
Sahm K,
|
||
Scholl-Bürgi S,
|
||
Thimm E,
|
||
Walter M,
|
||
Williams M,
|
||
Vom Dahl S,
|
||
Ziagaki A,
|
||
Zschocke J,
|
||
Kölker S</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2023 May;46(3):482-519.
|
||
Epub 2022 Nov 17
|
||
doi: 10.1002/jimd.12566.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36221165" target="_blank">36221165</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26346153">Neurometabolic diseases of childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Patay Z,
|
||
Blaser SI,
|
||
Poretti A,
|
||
Huisman TA</span><br />
|
||
<span class="medgenPMjournal">Pediatr Radiol</span>
|
||
2015 Sep;45 Suppl 3:S473-84.
|
||
Epub 2015 Sep 7
|
||
doi: 10.1007/s00247-015-3279-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26346153" target="_blank">26346153</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24495602">Liver transplantation for pediatric metabolic disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mazariegos G,
|
||
Shneider B,
|
||
Burton B,
|
||
Fox IJ,
|
||
Hadzic N,
|
||
Kishnani P,
|
||
Morton DH,
|
||
McIntire S,
|
||
Sokol RJ,
|
||
Summar M,
|
||
White D,
|
||
Chavanon V,
|
||
Vockley J</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2014 Apr;111(4):418-27.
|
||
Epub 2014 Jan 17
|
||
doi: 10.1016/j.ymgme.2014.01.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24495602" target="_blank">24495602</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=%22Inborn%20organic%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 (196)</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/36221165">Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boy N,
|
||
Mühlhausen C,
|
||
Maier EM,
|
||
Ballhausen D,
|
||
Baumgartner MR,
|
||
Beblo S,
|
||
Burgard P,
|
||
Chapman KA,
|
||
Dobbelaere D,
|
||
Heringer-Seifert J,
|
||
Fleissner S,
|
||
Grohmann-Held K,
|
||
Hahn G,
|
||
Harting I,
|
||
Hoffmann GF,
|
||
Jochum F,
|
||
Karall D,
|
||
Konstantopoulous V,
|
||
Krawinkel MB,
|
||
Lindner M,
|
||
Märtner EMC,
|
||
Nuoffer JM,
|
||
Okun JG,
|
||
Plecko B,
|
||
Posset R,
|
||
Sahm K,
|
||
Scholl-Bürgi S,
|
||
Thimm E,
|
||
Walter M,
|
||
Williams M,
|
||
Vom Dahl S,
|
||
Ziagaki A,
|
||
Zschocke J,
|
||
Kölker S</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2023 May;46(3):482-519.
|
||
Epub 2022 Nov 17
|
||
doi: 10.1002/jimd.12566.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36221165" target="_blank">36221165</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27613073">"Classical organic acidurias": diagnosis and pathogenesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Villani GR,
|
||
Gallo G,
|
||
Scolamiero E,
|
||
Salvatore F,
|
||
Ruoppolo M</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Med</span>
|
||
2017 Aug;17(3):305-323.
|
||
Epub 2016 Sep 9
|
||
doi: 10.1007/s10238-016-0435-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27613073" target="_blank">27613073</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1635807">Detection of inherited neurometabolic disorders. A practical clinical approach.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chaves-Carballo E</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
1992 Aug;39(4):801-20.
|
||
doi: 10.1016/s0031-3955(16)38376-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1635807" target="_blank">1635807</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6510017">Hyperammonemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Batshaw ML</span><br />
|
||
<span class="medgenPMjournal">Curr Probl Pediatr</span>
|
||
1984 Nov;14(11):1-69.
|
||
doi: 10.1016/0045-9380(84)90047-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6510017" target="_blank">6510017</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inborn%20organic%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 (369)</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>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32093054">Succinic Semialdehyde Dehydrogenase Deficiency: An Update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Didiášová M,
|
||
Banning A,
|
||
Brennenstuhl H,
|
||
Jung-Klawitter S,
|
||
Cinquemani C,
|
||
Opladen T,
|
||
Tikkanen R</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
2020 Feb 19;9(2)
|
||
doi: 10.3390/cells9020477.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32093054" target="_blank">32093054</a><a href="/pmc/articles/PMC7072817" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29262333">Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">An D,
|
||
Schneller JL,
|
||
Frassetto A,
|
||
Liang S,
|
||
Zhu X,
|
||
Park JS,
|
||
Theisen M,
|
||
Hong SJ,
|
||
Zhou J,
|
||
Rajendran R,
|
||
Levy B,
|
||
Howell R,
|
||
Besin G,
|
||
Presnyak V,
|
||
Sabnis S,
|
||
Murphy-Benenato KE,
|
||
Kumarasinghe ES,
|
||
Salerno T,
|
||
Mihai C,
|
||
Lukacs CM,
|
||
Chandler RJ,
|
||
Guey LT,
|
||
Venditti CP,
|
||
Martini PGV</span><br />
|
||
<span class="medgenPMjournal">Cell Rep</span>
|
||
2017 Dec 19;21(12):3548-3558.
|
||
doi: 10.1016/j.celrep.2017.11.081.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29262333" target="_blank">29262333</a><a href="/pmc/articles/PMC9667413" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3939533">Riboflavin-responsive ethylmalonic-adipic aciduria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Green A,
|
||
Marshall TG,
|
||
Bennett MJ,
|
||
Gray RG,
|
||
Pollitt RJ</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
1985;8(2):67-70.
|
||
doi: 10.1007/BF01801667.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3939533" target="_blank">3939533</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6207380">L-Carnitine insufficiency in disorders of organic acid metabolism: response to L-carnitine by patients with methylmalonic aciduria and 3-hydroxy-3-methylglutaric aciduria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chalmers RA,
|
||
Stacey TE,
|
||
Tracey BM,
|
||
de Sousa C,
|
||
Roe CR,
|
||
Millington DS,
|
||
Hoppel CL</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
1984;7 Suppl 2:109-10.
|
||
doi: 10.1007/978-94-009-5612-4_29.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6207380" target="_blank">6207380</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inborn%20organic%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 (72)</a></div><h3 class="subhead">Prognosis</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/32345314">2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grünert SC,
|
||
Sass JO</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2020 Apr 28;15(1):106.
|
||
doi: 10.1186/s13023-020-01357-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32345314" target="_blank">32345314</a><a href="/pmc/articles/PMC7187484" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32059735">3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grünert SC,
|
||
Sass JO</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2020 Feb 14;15(1):48.
|
||
doi: 10.1186/s13023-020-1319-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32059735" target="_blank">32059735</a><a href="/pmc/articles/PMC7023732" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22642865">3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grünert SC,
|
||
Stucki M,
|
||
Morscher RJ,
|
||
Suormala T,
|
||
Bürer C,
|
||
Burda P,
|
||
Christensen E,
|
||
Ficicioglu C,
|
||
Herwig J,
|
||
Kölker S,
|
||
Möslinger D,
|
||
Pasquini E,
|
||
Santer R,
|
||
Schwab KO,
|
||
Wilcken B,
|
||
Fowler B,
|
||
Yue WW,
|
||
Baumgartner MR</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2012 May 29;7:31.
|
||
doi: 10.1186/1750-1172-7-31.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22642865" target="_blank">22642865</a><a href="/pmc/articles/PMC3495011" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20924605">Chronic pancreatitis in branched-chain organic acidurias--a case of methylmalonic aciduria and an overview of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marquard J,
|
||
El Scheich T,
|
||
Klee D,
|
||
Schmitt M,
|
||
Meissner T,
|
||
Mayatepek E,
|
||
Oh J</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2011 Feb;170(2):241-5.
|
||
Epub 2010 Oct 6
|
||
doi: 10.1007/s00431-010-1313-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20924605" target="_blank">20924605</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inborn%20organic%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 (117)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37685964">Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Barroso M,
|
||
Gertzen M,
|
||
Puchwein-Schwepcke AF,
|
||
Preisler H,
|
||
Sturm A,
|
||
Reiss DD,
|
||
Danecka MK,
|
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Muntau AC,
|
||
Gersting SW</span><br />
|
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<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Aug 24;24(17)
|
||
doi: 10.3390/ijms241713158.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37685964" target="_blank">37685964</a><a href="/pmc/articles/PMC10487539" target="_blank" class="PubMedFree">Free PMC Article</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,
|
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Gebremariam A,
|
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McCoy S,
|
||
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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Catesini G,
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Rizzo C,
|
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Martinelli D,
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Spada M,
|
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Dionisi-Vici C,
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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/29335813">Organic acidurias in adults: late complications and management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tuncel AT,
|
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Boy N,
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Morath MA,
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<span class="medgenPMjournal">J Inherit Metab Dis</span>
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2018 Sep;41(5):765-776.
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Epub 2018 Jan 15
|
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|
||
<span class="bold">PMID: </span><a href="/pubmed/29335813" target="_blank">29335813</a></div>
|
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||
<div class="nl"><a target="_blank" href="/pubmed/22642865">3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Grünert SC,
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Stucki M,
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Morscher RJ,
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Suormala T,
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
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2012 May 29;7:31.
|
||
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|
||
<span class="bold">PMID: </span><a href="/pubmed/22642865" target="_blank">22642865</a><a href="/pmc/articles/PMC3495011" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2199597">Secondary carnitine deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Duran M,
|
||
Loof NE,
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<span class="medgenPMjournal">J Clin Chem Clin Biochem</span>
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1990 May;28(5):359-63.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2199597" target="_blank">2199597</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inborn%20organic%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 (117)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/25344299">Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zeltner NA,
|
||
Huemer M,
|
||
Baumgartner MR,
|
||
Landolt MA</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2014 Oct 25;9:159.
|
||
doi: 10.1186/s13023-014-0159-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25344299" target="_blank">25344299</a><a href="/pmc/articles/PMC4219016" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22336821">Carnitine supplementation for inborn errors of metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nasser M,
|
||
Javaheri H,
|
||
Fedorowicz Z,
|
||
Noorani Z</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2012 Feb 15;2012(2):CD006659.
|
||
doi: 10.1002/14651858.CD006659.pub3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22336821" target="_blank">22336821</a><a href="/pmc/articles/PMC7390060" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19370646">Carnitine supplementation for inborn errors of metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nasser M,
|
||
Javaheri H,
|
||
Fedorowicz Z,
|
||
Noorani Z</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2009 Apr 15;(2):CD006659.
|
||
doi: 10.1002/14651858.CD006659.pub2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19370646" target="_blank">19370646</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12880138">Capillary electrophoresis for the determination of organic acidurias in body fluids: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">García A,
|
||
Barbas C</span><br />
|
||
<span class="medgenPMjournal">Clin Chem Lab Med</span>
|
||
2003 Jun;41(6):755-61.
|
||
doi: 10.1515/CCLM.2003.115.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12880138" target="_blank">12880138</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9483156">Newborn screening for inborn errors of metabolism: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seymour CA,
|
||
Thomason MJ,
|
||
Chalmers RA,
|
||
Addison GM,
|
||
Bain MD,
|
||
Cockburn F,
|
||
Littlejohns P,
|
||
Lord J,
|
||
Wilcox AH</span><br />
|
||
<span class="medgenPMjournal">Health Technol Assess</span>
|
||
1997;1(11):i-iv, 1-95.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9483156" target="_blank">9483156</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inborn%20organic%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 (5)</a></div></div>
|
||
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|
||
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|
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|
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|
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<div class="supplemental col three_col last">
|
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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=C0241775%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (11)</a></li>
|
||
<li><a href="/gtr/tests?term=C0241775%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (11)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0241775%5bDISCUI%5d" target="_blank">See all (11)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Inborn%20organic%20aciduria" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(inborn%20organic%20aciduria)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Inborn%20organic%20aciduria" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/9433/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
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<a href="/pubmed/clinical?term=Inborn%20organic%20aciduria" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Inborn%20organic%20aciduria%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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<ul>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0241775[DISCUI]" ref="log$=recordlinks">GTR</a>
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<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C0241775[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/pmc?LinkName=medgen_pmc&from_uid=66037" ref="log$=recordlinks">PMC Articles</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67d3246384f3725e597d8712">Inborn organic aciduria</a>
|
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<div class="ralinkpop offscreen_noflow">Inborn organic aciduria<div class="brieflinkpopdesc"></div></div>
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<div class="tertiary">MedGen</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=4" href="/portal/utils/pageresolver.fcgi?recordid=67d324342f30673f7b324ef9">RecName: Full=Biotinidase; Short=Biotinase; Flags: Precursor</a>
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<div class="ralinkpop offscreen_noflow">RecName: Full=Biotinidase; Short=Biotinase; Flags: Precursor<div class="brieflinkpopdesc">gi|226693503|sp|P43251.2|BTD_HUMAN</div></div>
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<div class="ralinkpop offscreen_noflow">Homo sapiens chromosome 3 clone RP11-792N12 map 3p, complete sequence<div class="brieflinkpopdesc">gi|24796755|gnl|hgcigcas|RP11-792N1 AC027129.6|</div></div>
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