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 |
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Amendt BA and Rhead WJ | The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts. | 1986 | J. Clin. Invest. | pmid:3722376 |
Ikeda Y et al. | Biosynthesis of electron transfer flavoprotein in a cell-free system and in cultured human fibroblasts. Defect in the alpha subunit synthesis is a primary lesion in glutaric aciduria type II. | 1986 | J. Clin. Invest. | pmid:3760196 |
Elias E et al. | Ethylmalonic adipic aciduria--a treatable hepatomuscular disorder in two adult brothers. | 1997 | J. Hepatol. | pmid:9059968 |
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 |
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 |
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 |
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 |
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 |