| 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 |
| Brain Diseases, Metabolic | D001928 | 9 associated lipids |
| Muscle Hypotonia | D009123 | 5 associated lipids |
| Mitochondrial Encephalomyopathies | D017237 | 2 associated lipids |
| Multiple Acyl Coenzyme A Dehydrogenase Deficiency | D054069 | 1 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 |
|---|
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 |
|---|---|---|---|---|
| Liang Y et al. | [Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)]. | 2003 | Zhonghua Er Ke Za Zhi | pmid:14723814 |
| Tomlinson L et al. | Cannabinoid receptor antagonist-induced striated muscle toxicity and ethylmalonic-adipic aciduria in beagle dogs. | 2012 | Toxicol. Sci. | pmid:22821849 |
| Takei M et al. | Ethylene glycol monomethyl ether-induced toxicity is mediated through the inhibition of flavoprotein dehydrogenase enzyme family. | 2010 | Toxicol. Sci. | pmid:20616209 |
| Schuck PF et al. | Ethylmalonic acid modulates Na+, K(+)-ATPase activity and mRNA levels in rat cerebral cortex. | 2013 | Synapse | pmid:23161776 |
| Zolkipli Z et al. | Vulnerability to oxidative stress in vitro in pathophysiology of mitochondrial short-chain acyl-CoA dehydrogenase deficiency: response to antioxidants. | 2011 | PLoS ONE | pmid:21483766 |
| Skovran E et al. | A systems biology approach uncovers cellular strategies used by Methylobacterium extorquens AM1 during the switch from multi- to single-carbon growth. | 2010 | PLoS ONE | pmid:21124828 |
| Bok LA et al. | Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder. | 2003 | Pediatrics | pmid:14595061 |
| Corydon MJ et al. | Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase. | 1996 | Pediatr. Res. | pmid:8725270 |
| Gregersen N et al. | C6-C10-dicarboxylic aciduria: investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects. | 1982 | Pediatr. Res. | pmid:7145508 |
| van Maldegem BT et al. | Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency. | 2010 | Pediatr. Res. | pmid:19952864 |
| Rinaldo P et al. | Ethylmalonic/adipic aciduria: effects of oral medium-chain triglycerides, carnitine, and glycine on urinary excretion of organic acids, acylcarnitines, and acylglycines. | 1991 | Pediatr. Res. | pmid:1945558 |
| Wood PA et al. | Short-chain acyl-coenzyme A dehydrogenase deficiency in mice. | 1989 | Pediatr. Res. | pmid:2919115 |
| GarcÃa-Silva MT et al. | Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria. | 1997 | Pediatr. Neurol. | pmid:9367300 |
| Schimming R et al. | Evaluation of microvascular bone graft reconstruction of the head and neck with 3-D 99mTc-DPD SPECT scans. | 2000 | Oral Surg Oral Med Oral Pathol Oral Radiol Endod | pmid:11113810 |
| Zannolli R et al. | Silent increase of urinary ethylmalonic acid is an indicator of nonspecific brain dysfunction. | 2010 | NMR Biomed | pmid:20187168 |
| Plecko B | Lessons to learn from rare inborn errors of metabolism. | 2007 | Neuropediatrics | pmid:17712731 |
| Zafeiriou DI et al. | Ethylmalonic encephalopathy: clinical and biochemical observations. | 2007 | Neuropediatrics | pmid:17712735 |
| Westermann CM et al. | Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy. | 2008 | Neuromuscul. Disord. | pmid:18406615 |
| 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 |
| Schuck PF et al. | Promotion of lipid and protein oxidative damage in rat brain by ethylmalonic acid. | 2010 | Neurochem. Res. | pmid:19757035 |
| Srb V et al. | Cytogenetic monitoring of a 24-hour effect of ethylmalonate platinum complex on human peripheral blood lymphocytes. | 1986 | Neoplasma | pmid:3785467 |
| 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 |
| Dusheiko G et al. | Recurrent hypoglycemia associated with glutaric aciduria type II in an adult. | 1979 | N. Engl. J. Med. | pmid:514320 |
| 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 |
| Nowaczyk MJ et al. | Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism. | 1998 | Metab. Clin. Exp. | pmid:9667231 |
| 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 |
| Burlina A et al. | New clinical phenotype of branched-chain acyl-CoA oxidation defect. | 1991 | Lancet | pmid:1683940 |
| Chae JH et al. | Risk factors of ocular involvement in children with mitochondrial respiratory chain complex defect. | 2010 | Korean J Pediatr | pmid:21253313 |
| van Maldegem BT et al. | Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency. | 2006 | JAMA | pmid:16926354 |
| 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 |
| Grosso S et al. | Ethylmalonic encephalopathy: further clinical and neuroradiological characterization. | 2002 | J. Neurol. | pmid:12382164 |
| Tiranti V et al. | ETHE1 mutations are specific to ethylmalonic encephalopathy. | 2006 | J. Med. Genet. | pmid:16183799 |
| Sack I and Vega S | Efficient deuterium-carbon REDOR NMR spectroscopy. | 2000 | J. Magn. Reson. | pmid:10873496 |
| 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 |
| 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 |
| 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 |
| 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 |