| 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 |
|---|---|---|---|---|
| Okuyaz C et al. | Severe infantile hypotonia with ethylmalonic aciduria: case report. | 2008 | J. Child Neurol. | pmid:18539996 |
| Pavlou E et al. | An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder. | 2013 | J. Child Neurol. | pmid:22805253 |
| Das AM et al. | Inborn errors of energy metabolism associated with myopathies. | 2010 | J. Biomed. Biotechnol. | pmid:20589068 |
| Linster CL et al. | Ethylmalonyl-CoA decarboxylase, a new enzyme involved in metabolite proofreading. | 2011 | J. Biol. Chem. | pmid:22016388 |
| Eastman MA et al. | Conformation of the 18-23 loop region of bovine prothrombin in the absence and presence of a model Ca2+ ion. An energy minimization study. | 1986 | Int. J. Pept. Protein Res. | pmid:3733321 |
| 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 |
| 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 |
| Kristensen MJ et al. | Amino acid polymorphism (Gly209Ser) in the ACADS gene. | 1994 | Hum. Mol. Genet. | pmid:7833941 |
| Pedersen CB et al. | The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. | 2008 | Hum. Genet. | pmid:18523805 |
| 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 |
| Sewell AC et al. | A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria. | 1993 | Eur. J. Pediatr. | pmid:8276024 |
| al-Essa MA et al. | Clinical and brain 18fluoro-2-deoxyglucose positron emission tomographic findings in ethylmalonic aciduria, a progressive neurometabolic disease. | 1999 | Eur. J. Paediatr. Neurol. | pmid:10461568 |
| Rétey J et al. | Investigation of the mechanism of the methylmalonyl-CoA mutase reaction with the substrate analogue: ethylmalonyl-CoA. | 1978 | Eur. J. Biochem. | pmid:24538 |
| Gordon N | Acyl-CoA dehydrogenase deficiency: varieties with neurological involvement. | 2005 | Dev Med Child Neurol | pmid:15739728 |
| Rinaldo P et al. | Recent developments and new applications of tandem mass spectrometry in newborn screening. | 2004 | Curr. Opin. Pediatr. | pmid:15273505 |
| Herdman MT et al. | The role of previously unmeasured organic acids in the pathogenesis of severe malaria. | 2015 | Crit Care | pmid:26343146 |
| Young SP et al. | A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency. | 2003 | Clin. Chim. Acta | pmid:14568186 |
| Tanaka K et al. | Identification of ethylmalonic acid in urine of two patients with the vomitting sickness of Jamaica. | 1976 | Clin. Chim. Acta | pmid:1269146 |
| Mustafi D et al. | ENDOR studies of VO2+: probing protein-metal ion interactions in nephrocalcin. | 2000 | Cell. Mol. Biol. (Noisy-le-grand) | pmid:11156480 |
| Heberle LC et al. | Ethylmalonic encephalopathy-report of two cases. | 2006 | Brain Dev. | pmid:16376514 |