| MeSH term | MeSH ID | Detail |
|---|---|---|
| Brain Diseases | D001927 | 27 associated lipids |
| Abnormalities, Multiple | D000015 | 13 associated lipids |
| Intellectual Disability | D008607 | 13 associated lipids |
| Metabolism, Inborn Errors | D008661 | 46 associated lipids |
| Leukocytosis | D007964 | 9 associated lipids |
| Lipid Metabolism, Inborn Errors | D008052 | 26 associated lipids |
| Glomerulonephritis | D005921 | 35 associated lipids |
| Brain Diseases, Metabolic, Inborn | D020739 | 10 associated lipids |
| Vomiting | D014839 | 21 associated lipids |
| Central Nervous System Diseases | D002493 | 10 associated lipids |
Ethylmalonic acid
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.
Cross Reference
Introduction
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.
What diseases are associated with Ethylmalonic acid?
Ethylmalonic acid is suspected in Petechiae, Metabolic Diseases and other diseases in descending order of the highest number of associated sentences.
Related references are mostly published in these journals:
| Disease | Cross reference | Weighted score | Related literature |
|---|
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Possible diseases from mapped MeSH terms on references
We collected disease MeSH terms mapped to the references associated with Ethylmalonic acid
PubChem Associated disorders and diseases
What pathways are associated with Ethylmalonic acid
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.
Related references are published most in these journals:
| Pathway name | Related literatures |
|---|
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PubChem Biomolecular Interactions and Pathways
Link to PubChem Biomolecular Interactions and PathwaysWhat cellular locations are associated with Ethylmalonic acid?
Visualization in cellular structure
Associated locations are in red color. Not associated locations are in black.
Related references are published most in these journals:
| Location | Cross reference | Weighted score | Related literatures |
|---|
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What functions are associated with Ethylmalonic acid?
Related references are published most in these journals:
| Function | Cross reference | Weighted score | Related literatures |
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What lipids are associated with Ethylmalonic acid?
Related references are published most in these journals:
| Lipid concept | Cross reference | Weighted score | Related literatures |
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What genes are associated with Ethylmalonic acid?
Related references are published most in these journals:
| Gene | Cross reference | Weighted score | Related literatures |
|---|
What common seen animal models are associated with Ethylmalonic acid?
There are no associated biomedical information in the current reference collection.
NCBI Entrez Crosslinks
All references with Ethylmalonic acid
Download all related citations| Authors | Title | Published | Journal | PubMed Link |
|---|---|---|---|---|
| Nowaczyk MJ et al. | Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism. | 1998 | Metab. Clin. Exp. | pmid:9667231 |
| Ribes A et al. | Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency. | 1998 | Eur. J. Pediatr. | pmid:9578969 |
| Gregersen N et al. | Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria. | 1998 | Hum. Mol. Genet. | pmid:9499414 |
| Nowaczyk MJ et al. | Central nervous system malformations in ethylmalonic encephalopathy. | 1998 | Am. J. Med. Genet. | pmid:9475600 |
| GarcÃa-Silva MT et al. | Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria. | 1997 | Pediatr. Neurol. | pmid:9367300 |
| Elias E et al. | Ethylmalonic adipic aciduria--a treatable hepatomuscular disorder in two adult brothers. | 1997 | J. Hepatol. | pmid:9059968 |
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| 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 |
| 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 |
| Burlina AB et al. | A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts. | 1994 | J. Pediatr. | pmid:8283379 |
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| Kristensen MJ et al. | Amino acid polymorphism (Gly209Ser) in the ACADS gene. | 1994 | Hum. Mol. Genet. | pmid:7833941 |
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| Schuck PF et al. | Ethylmalonic acid modulates Na+, K(+)-ATPase activity and mRNA levels in rat cerebral cortex. | 2013 | Synapse | pmid:23161776 |
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| Gallant NM et al. | Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California. | 2012 | Mol. Genet. Metab. | pmid:22424739 |
| Amaral AU et al. | Ethylmalonic acid impairs brain mitochondrial succinate and malate transport. | 2012 | Mol. Genet. Metab. | pmid:22133302 |
| Linster CL et al. | Ethylmalonyl-CoA decarboxylase, a new enzyme involved in metabolite proofreading. | 2011 | J. Biol. Chem. | pmid:22016388 |
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