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.

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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

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
Per page 10 20 | Total 14

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 Pathways

What cellular locations are associated with Ethylmalonic acid?

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

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

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Per page 10 20 50 100 | Total 119
Authors Title Published Journal PubMed Link
Tiranti V et al. ETHE1 mutations are specific to ethylmalonic encephalopathy. 2006 J. Med. Genet. pmid:16183799
Gordon N Acyl-CoA dehydrogenase deficiency: varieties with neurological involvement. 2005 Dev Med Child Neurol pmid:15739728
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
Rinaldo P et al. Recent developments and new applications of tandem mass spectrometry in newborn screening. 2004 Curr. Opin. Pediatr. pmid:15273505
Tiranti V et al. Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. 2004 Am. J. Hum. Genet. pmid:14732903
McGowan KA et al. The role of methionine in ethylmalonic encephalopathy with petechiae. 2004 Arch. Neurol. pmid:15096407
Leipnitz G et al. Ethylmalonic acid inhibits mitochondrial creatine kinase activity from cerebral cortex of young rats in vitro. 2003 Neurochem. Res. pmid:12716029
Bok LA et al. Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder. 2003 Pediatrics pmid:14595061
Liang Y et al. [Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)]. 2003 Zhonghua Er Ke Za Zhi pmid:14723814
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