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 |
---|---|---|---|---|
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 |
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 |
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 |
Barth M et al. | Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy. | 2010 | J. Inherit. Metab. Dis. | pmid:20978941 |
Schuck PF et al. | Promotion of lipid and protein oxidative damage in rat brain by ethylmalonic acid. | 2010 | Neurochem. Res. | pmid:19757035 |
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 |
Pedersen CB et al. | Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria. | 2010 | J. Inherit. Metab. Dis. | pmid:20443061 |
van Maldegem BT et al. | Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency. | 2010 | J. Inherit. Metab. Dis. | pmid:20429031 |
DiMauro S | Pathogenesis and treatment of mitochondrial myopathies: recent advances. | 2010 | Acta Myol | pmid:21314015 |
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 |