| MeSH term | MeSH ID | Detail |
|---|---|---|
| Brain Diseases | D001927 | 27 associated lipids |
| Abnormalities, Multiple | D000015 | 13 associated lipids |
| Intellectual Disability | D008607 | 13 associated lipids |
| Metabolism, Inborn Errors | D008661 | 46 associated lipids |
| Leukocytosis | D007964 | 9 associated lipids |
| Lipid Metabolism, Inborn Errors | D008052 | 26 associated lipids |
| Glomerulonephritis | D005921 | 35 associated lipids |
| Brain Diseases, Metabolic, Inborn | D020739 | 10 associated lipids |
| Vomiting | D014839 | 21 associated lipids |
| Central Nervous System Diseases | D002493 | 10 associated lipids |
Ethylmalonic acid
Ethylmalonic acid is a lipid of Fatty Acyls (FA) class. Ethylmalonic acid is associated with abnormalities such as Petechiae and Metabolic Diseases. The involved functions are known as Oxidation, Catabolic Process, Excretory function and Acidemia. Ethylmalonic acid often locates in Mitochondria. The associated genes with Ethylmalonic acid are N-caproylglycine and ETHE1 gene. The related lipids are Fatty Acids and sebacic acid.
Cross Reference
Introduction
To understand associated biological information of Ethylmalonic acid, we collected biological information of abnormalities, associated pathways, cellular/molecular locations, biological functions, related genes/proteins, lipids and common seen animal/experimental models with organized paragraphs from literatures.
What diseases are associated with Ethylmalonic acid?
Ethylmalonic acid is suspected in Petechiae, Metabolic Diseases and other diseases in descending order of the highest number of associated sentences.
Related references are mostly published in these journals:
| Disease | Cross reference | Weighted score | Related literature |
|---|
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Possible diseases from mapped MeSH terms on references
We collected disease MeSH terms mapped to the references associated with Ethylmalonic acid
PubChem Associated disorders and diseases
What pathways are associated with Ethylmalonic acid
Lipid pathways are not clear in current pathway databases. We organized associated pathways with Ethylmalonic acid through full-text articles, including metabolic pathways or pathways of biological mechanisms.
Related references are published most in these journals:
| Pathway name | Related literatures |
|---|
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PubChem Biomolecular Interactions and Pathways
Link to PubChem Biomolecular Interactions and PathwaysWhat cellular locations are associated with Ethylmalonic acid?
Visualization in cellular structure
Associated locations are in red color. Not associated locations are in black.
Related references are published most in these journals:
| Location | Cross reference | Weighted score | Related literatures |
|---|
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What functions are associated with Ethylmalonic acid?
Related references are published most in these journals:
| Function | Cross reference | Weighted score | Related literatures |
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What lipids are associated with Ethylmalonic acid?
Related references are published most in these journals:
| Lipid concept | Cross reference | Weighted score | Related literatures |
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What genes are associated with Ethylmalonic acid?
Related references are published most in these journals:
| Gene | Cross reference | Weighted score | Related literatures |
|---|
What common seen animal models are associated with Ethylmalonic acid?
There are no associated biomedical information in the current reference collection.
NCBI Entrez Crosslinks
All references with Ethylmalonic acid
Download all related citations| Authors | Title | Published | Journal | PubMed Link |
|---|---|---|---|---|
| pmid:16460720 | ||||
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| pmid:16101709 | ||||
| pmid:15380647 | ||||
| pmid:12220177 | ||||
| pmid:27466294 | ||||
| pmid:26010931 | ||||
| pmid:25583115 | ||||
| pmid:24557940 | ||||
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| Doboszewski B et al. | 6-[Bis(ethoxycarbonyl)methyl]-6-deoxy-1,2;3,4-di-O-isopropyl-idene-d-galacto-pyran-ose. | 2010 | Acta Crystallogr Sect E Struct Rep Online | pmid:21589509 |
| DiMauro S | Pathogenesis and treatment of mitochondrial myopathies: recent advances. | 2010 | Acta Myol | pmid:21314015 |
| Gregersen N et al. | Riboflavin responsive multiple acyl-CoA dehydrogenation deficiency. Assessment of 3 years of riboflavin treatment. | 1986 | Acta Paediatr Scand | pmid:3751563 |
| Birkebaek NH et al. | Hypoglycaemia and elevated urine ethylmalonic acid in a child homozygous for the short-chain acyl-CoA dehydrogenase 625G > A gene variation. | 2002 | Acta Paediatr. | pmid:12061367 |
| Tiranti V et al. | Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. | 2004 | Am. J. Hum. Genet. | pmid:14732903 |
| Nowaczyk MJ et al. | Central nervous system malformations in ethylmalonic encephalopathy. | 1998 | Am. J. Med. Genet. | pmid:9475600 |
| Cheav SL et al. | [Synthesis and pharmacological activity of ethyl N-acetic and N-malonic esters of heterocyclic derivatives]. | 1993 | Ann Pharm Fr | pmid:8215120 |
| McGowan KA et al. | The role of methionine in ethylmalonic encephalopathy with petechiae. | 2004 | Arch. Neurol. | pmid:15096407 |
| Schuck PF et al. | Chronic early postnatal administration of ethylmalonic acid to rats causes behavioral deficit. | 2009 | Behav. Brain Res. | pmid:18950661 |
| Duran M et al. | The urinary excretion of ethylmalonic acid: what level requires further attention? | 1983 | Biochem Med | pmid:6860317 |
| Qureshi IA et al. | Breeding experiments to combine the X-linked sparse-fur (spf) mutation with the autosomal recessive BALB/cByJ strain: testing the biochemical phenotype of double-mutant mice as a model for ammonia: fatty acyl CoA synergism. | 1993 | Biochem. Biophys. Res. Commun. | pmid:8461026 |
| Schiffer SP et al. | Organic aciduria and butyryl CoA dehydrogenase deficiency in BALB/cByJ mice. | 1989 | Biochem. Genet. | pmid:2712823 |
| Montgomery JA et al. | Metabolism of ethylmalonate to mesaconate in the rat. Evidence for trans-dehydrogenation of methylsuccinate. | 1983 | Biochem. J. | pmid:6225430 |
| O'Harte FP et al. | Methylmalonic acid in the diagnosis of cobalt deficiency in barley-fed lambs. | 1989 | Br. J. Nutr. | pmid:2605162 |
| Ozand PT et al. | Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathy. | 1994 | Brain Dev. | pmid:7726376 |
| Heberle LC et al. | Ethylmalonic encephalopathy-report of two cases. | 2006 | Brain Dev. | pmid:16376514 |
| Mustafi D et al. | ENDOR studies of VO2+: probing protein-metal ion interactions in nephrocalcin. | 2000 | Cell. Mol. Biol. (Noisy-le-grand) | pmid:11156480 |
| Young SP et al. | A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency. | 2003 | Clin. Chim. Acta | pmid:14568186 |
| Tanaka K et al. | Identification of ethylmalonic acid in urine of two patients with the vomitting sickness of Jamaica. | 1976 | Clin. Chim. Acta | pmid:1269146 |
| Herdman MT et al. | The role of previously unmeasured organic acids in the pathogenesis of severe malaria. | 2015 | Crit Care | pmid:26343146 |
| Rinaldo P et al. | Recent developments and new applications of tandem mass spectrometry in newborn screening. | 2004 | Curr. Opin. Pediatr. | pmid:15273505 |
| Gordon N | Acyl-CoA dehydrogenase deficiency: varieties with neurological involvement. | 2005 | Dev Med Child Neurol | pmid:15739728 |
| Rétey J et al. | Investigation of the mechanism of the methylmalonyl-CoA mutase reaction with the substrate analogue: ethylmalonyl-CoA. | 1978 | Eur. J. Biochem. | pmid:24538 |
| al-Essa MA et al. | Clinical and brain 18fluoro-2-deoxyglucose positron emission tomographic findings in ethylmalonic aciduria, a progressive neurometabolic disease. | 1999 | Eur. J. Paediatr. Neurol. | pmid:10461568 |
| Ribes A et al. | Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency. | 1998 | Eur. J. Pediatr. | pmid:9578969 |
| Sewell AC et al. | A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria. | 1993 | Eur. J. Pediatr. | pmid:8276024 |
| Pedersen CB et al. | The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. | 2008 | Hum. Genet. | pmid:18523805 |
| Gregersen N et al. | Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria. | 1998 | Hum. Mol. Genet. | pmid:9499414 |
| Kristensen MJ et al. | Amino acid polymorphism (Gly209Ser) in the ACADS gene. | 1994 | Hum. Mol. Genet. | pmid:7833941 |
| Ballard CG et al. | Eating disorder in a 6-year-old Asian girl with ethyl malonic adipic aciduria. | 1993 | Int J Eat Disord | pmid:8477295 |
| Eastman MA et al. | Conformation of the 18-23 loop region of bovine prothrombin in the absence and presence of a model Ca2+ ion. An energy minimization study. | 1986 | Int. J. Pept. Protein Res. | pmid:3733321 |
| Linster CL et al. | Ethylmalonyl-CoA decarboxylase, a new enzyme involved in metabolite proofreading. | 2011 | J. Biol. Chem. | pmid:22016388 |
| Das AM et al. | Inborn errors of energy metabolism associated with myopathies. | 2010 | J. Biomed. Biotechnol. | pmid:20589068 |
| Okuyaz C et al. | Severe infantile hypotonia with ethylmalonic aciduria: case report. | 2008 | J. Child Neurol. | pmid:18539996 |
| Pavlou E et al. | An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder. | 2013 | J. Child Neurol. | pmid:22805253 |
| Amendt BA et al. | Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients. | 1987 | J. Clin. Invest. | pmid:3571488 |
| Amendt BA and Rhead WJ | The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts. | 1986 | J. Clin. Invest. | pmid:3722376 |
| Ikeda Y et al. | Biosynthesis of electron transfer flavoprotein in a cell-free system and in cultured human fibroblasts. Defect in the alpha subunit synthesis is a primary lesion in glutaric aciduria type II. | 1986 | J. Clin. Invest. | pmid:3760196 |
| Elias E et al. | Ethylmalonic adipic aciduria--a treatable hepatomuscular disorder in two adult brothers. | 1997 | J. Hepatol. | pmid:9059968 |
| Bross P et al. | Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential. | 2007 | J. Hum. Genet. | pmid:17072495 |
| Lehnert W and Ruitenbeek W | Ethylmalonic aciduria associated with progressive neurological disease and partial cytochrome c oxidase deficiency. | 1993 | J. Inherit. Metab. Dis. | pmid:7609451 |
| Garavaglia B et al. | Muscle cytochrome c oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype. | 1994 | J. Inherit. Metab. Dis. | pmid:7807937 |
| Yoon HR et al. | Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy: response to riboflavin. | 2001 | J. Inherit. Metab. Dis. | pmid:11916321 |
| Schmidt SP et al. | Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase. | 2011 | J. Inherit. Metab. Dis. | pmid:21170680 |
| Seidel J et al. | Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene. | 2003 | J. Inherit. Metab. Dis. | pmid:12872838 |
| Fu X et al. | Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes. | 2003 | J. Inherit. Metab. Dis. | pmid:12872841 |
| Barth M et al. | Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy. | 2010 | J. Inherit. Metab. Dis. | pmid:20978941 |
| Pedersen CB et al. | Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria. | 2010 | J. Inherit. Metab. Dis. | pmid:20443061 |
| Merinero B et al. | Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy. | 2006 | J. Inherit. Metab. Dis. | pmid:16906473 |
| Read MH et al. | Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) findings in a fourth case of combined D- and L-2 hydroxyglutaric aciduria. | 2005 | J. Inherit. Metab. Dis. | pmid:16435212 |
| van Maldegem BT et al. | Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency. | 2010 | J. Inherit. Metab. Dis. | pmid:20429031 |
| Rodenburg RJ | Biochemical diagnosis of mitochondrial disorders. | 2011 | J. Inherit. Metab. Dis. | pmid:20440652 |
| Bosch AM et al. | Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. | 2011 | J. Inherit. Metab. Dis. | pmid:21110228 |
| Hoffmann GF et al. | Progressive fatal pancytopenia, psychomotor retardation and muscle carnitine deficiency in a child with ethylmalonic aciduria and ethylmalonic acidaemia. | 1990 | J. Inherit. Metab. Dis. | pmid:2172644 |
| Sack I and Vega S | Efficient deuterium-carbon REDOR NMR spectroscopy. | 2000 | J. Magn. Reson. | pmid:10873496 |
| Tiranti V et al. | ETHE1 mutations are specific to ethylmalonic encephalopathy. | 2006 | J. Med. Genet. | pmid:16183799 |
| Grosso S et al. | Ethylmalonic encephalopathy: further clinical and neuroradiological characterization. | 2002 | J. Neurol. | pmid:12382164 |
| Burlina AB et al. | A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts. | 1994 | J. Pediatr. | pmid:8283379 |
| Harpey JP et al. | Sudden infant death syndrome and multiple acyl-coenzyme A dehydrogenase deficiency, ethylmalonic-adipic aciduria, or systemic carnitine deficiency. | 1987 | J. Pediatr. | pmid:3585604 |
| van Maldegem BT et al. | Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency. | 2006 | JAMA | pmid:16926354 |
| Chae JH et al. | Risk factors of ocular involvement in children with mitochondrial respiratory chain complex defect. | 2010 | Korean J Pediatr | pmid:21253313 |
| Burlina A et al. | New clinical phenotype of branched-chain acyl-CoA oxidation defect. | 1991 | Lancet | pmid:1683940 |
| Barschak AG et al. | Inhibition of the electron transport chain and creatine kinase activity by ethylmalonic acid in human skeletal muscle. | 2006 | Metab Brain Dis | pmid:16773466 |
| Ferreira Gda C et al. | Effect of in vivo administration of ethylmalonic acid on energy metabolism in rat tissues. | 2006 | Metab Brain Dis | pmid:16773468 |
| Dweikat I et al. | Ethylmalonic encephalopathy associated with crescentic glomerulonephritis. | 2012 | Metab Brain Dis | pmid:22584649 |
| Nowaczyk MJ et al. | Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism. | 1998 | Metab. Clin. Exp. | pmid:9667231 |
| Amaral AU et al. | Ethylmalonic acid impairs brain mitochondrial succinate and malate transport. | 2012 | Mol. Genet. Metab. | pmid:22133302 |
| Westermann CM et al. | Decreased oxidative phosphorylation and PGAM deficiency in horses suffering from atypical myopathy associated with acquired MADD. | 2011 | Mol. Genet. Metab. | pmid:21843962 |
| Di Rocco M et al. | A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation. | 2006 | Mol. Genet. Metab. | pmid:16828325 |
| Gallant NM et al. | Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California. | 2012 | Mol. Genet. Metab. | pmid:22424739 |
| Dusheiko G et al. | Recurrent hypoglycemia associated with glutaric aciduria type II in an adult. | 1979 | N. Engl. J. Med. | pmid:514320 |
| Tiranti V et al. | Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. | 2009 | Nat. Med. | pmid:19136963 |
| Viscomi C et al. | Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy. | 2010 | Nat. Med. | pmid:20657580 |
| Srb V et al. | Cytogenetic monitoring of a 24-hour effect of ethylmalonate platinum complex on human peripheral blood lymphocytes. | 1986 | Neoplasma | pmid:3785467 |
| Leipnitz G et al. | Ethylmalonic acid inhibits mitochondrial creatine kinase activity from cerebral cortex of young rats in vitro. | 2003 | Neurochem. Res. | pmid:12716029 |
| Schuck PF et al. | Inhibition of creatine kinase activity in vitro by ethylmalonic acid in cerebral cortex of young rats. | 2002 | Neurochem. Res. | pmid:12515316 |