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 |
---|---|---|---|---|
pmid:15380647 | ||||
Gordon N | Acyl-CoA dehydrogenase deficiency: varieties with neurological involvement. | 2005 | Dev Med Child Neurol | pmid:15739728 |
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 |