MeSH term | MeSH ID | Detail |
---|---|---|
Lipid Metabolism, Inborn Errors | D008052 | 26 associated lipids |
Brain Diseases | D001927 | 27 associated lipids |
Glomerulonephritis | D005921 | 35 associated lipids |
Metabolism, Inborn Errors | D008661 | 46 associated lipids |
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.
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.
Ethylmalonic acid is suspected in Petechiae, Metabolic Diseases and other diseases in descending order of the highest number of associated sentences.
Disease | Cross reference | Weighted score | Related literature |
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We collected disease MeSH terms mapped to the references associated with Ethylmalonic acid
MeSH term | MeSH ID | Detail |
---|---|---|
Lipid Metabolism, Inborn Errors | D008052 | 26 associated lipids |
Brain Diseases | D001927 | 27 associated lipids |
Glomerulonephritis | D005921 | 35 associated lipids |
Metabolism, Inborn Errors | D008661 | 46 associated lipids |
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.
Pathway name | Related literatures |
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Associated locations are in red color. Not associated locations are in black.
Location | Cross reference | Weighted score | Related literatures |
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Function | Cross reference | Weighted score | Related literatures |
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Lipid concept | Cross reference | Weighted score | Related literatures |
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Gene | Cross reference | Weighted score | Related literatures |
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There are no associated biomedical information in the current reference collection.
Authors | Title | Published | Journal | PubMed Link |
---|---|---|---|---|
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 |
Gordon N | Acyl-CoA dehydrogenase deficiency: varieties with neurological involvement. | 2005 | Dev Med Child Neurol | pmid:15739728 |
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 |
Rinaldo P et al. | Recent developments and new applications of tandem mass spectrometry in newborn screening. | 2004 | Curr. Opin. Pediatr. | pmid:15273505 |
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 |
McGowan KA et al. | The role of methionine in ethylmalonic encephalopathy with petechiae. | 2004 | Arch. Neurol. | pmid:15096407 |
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 |
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 |