| 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 |
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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: | ||||
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| pmid:12220177 | ||||
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| 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 |
| Leipnitz G et al. | Ethylmalonic acid inhibits mitochondrial creatine kinase activity from cerebral cortex of young rats in vitro. | 2003 | Neurochem. Res. | pmid:12716029 |
| 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 |
| 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 |
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| pmid:15380647 | ||||
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| pmid:16101709 | ||||
| Tiranti V et al. | ETHE1 mutations are specific to ethylmalonic encephalopathy. | 2006 | J. Med. Genet. | pmid:16183799 |
| Heberle LC et al. | Ethylmalonic encephalopathy-report of two cases. | 2006 | Brain Dev. | pmid:16376514 |
| 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 |
| pmid:16460720 | ||||
| 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 |
| Di Rocco M et al. | A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation. | 2006 | Mol. Genet. Metab. | pmid:16828325 |
| Burlina A et al. | New clinical phenotype of branched-chain acyl-CoA oxidation defect. | 1991 | Lancet | pmid:1683940 |
| 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, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency. | 2006 | JAMA | pmid:16926354 |
| 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 |
| pmid:17304052 | ||||
| pmid:17540595 | ||||
| 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 |
| pmid:18175080 | ||||
| Westermann CM et al. | Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy. | 2008 | Neuromuscul. Disord. | pmid:18406615 |
| pmid:18490946 | ||||
| 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 |
| Okuyaz C et al. | Severe infantile hypotonia with ethylmalonic aciduria: case report. | 2008 | J. Child Neurol. | pmid:18539996 |
| Schuck PF et al. | Chronic early postnatal administration of ethylmalonic acid to rats causes behavioral deficit. | 2009 | Behav. Brain Res. | pmid:18950661 |
| pmid:18977676 | ||||
| Tiranti V et al. | Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. | 2009 | Nat. Med. | pmid:19136963 |
| 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 |
| Schuck PF et al. | Promotion of lipid and protein oxidative damage in rat brain by ethylmalonic acid. | 2010 | Neurochem. Res. | pmid:19757035 |
| pmid:19800078 | ||||
| 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 |