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 |
---|---|---|---|---|
Ozand PT et al. | Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathy. | 1994 | Brain Dev. | pmid:7726376 |
Qureshi IA et al. | Breeding experiments to combine the X-linked sparse-fur (spf) mutation with the autosomal recessive BALB/cByJ strain: testing the biochemical phenotype of double-mutant mice as a model for ammonia: fatty acyl CoA synergism. | 1993 | Biochem. Biophys. Res. Commun. | pmid:8461026 |
Lehnert W and Ruitenbeek W | Ethylmalonic aciduria associated with progressive neurological disease and partial cytochrome c oxidase deficiency. | 1993 | J. Inherit. Metab. Dis. | pmid:7609451 |
Ballard CG et al. | Eating disorder in a 6-year-old Asian girl with ethyl malonic adipic aciduria. | 1993 | Int J Eat Disord | pmid:8477295 |
Cheav SL et al. | [Synthesis and pharmacological activity of ethyl N-acetic and N-malonic esters of heterocyclic derivatives]. | 1993 | Ann Pharm Fr | pmid:8215120 |
Sewell AC et al. | A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria. | 1993 | Eur. J. Pediatr. | pmid:8276024 |
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 |
Burlina A et al. | New clinical phenotype of branched-chain acyl-CoA oxidation defect. | 1991 | Lancet | pmid:1683940 |
Hoffmann GF et al. | Progressive fatal pancytopenia, psychomotor retardation and muscle carnitine deficiency in a child with ethylmalonic aciduria and ethylmalonic acidaemia. | 1990 | J. Inherit. Metab. Dis. | pmid:2172644 |
O'Harte FP et al. | Methylmalonic acid in the diagnosis of cobalt deficiency in barley-fed lambs. | 1989 | Br. J. Nutr. | pmid:2605162 |