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.

References related to pathways published in J. Med. Genet.


PMIDJournalPublished DateAuthorTitle
16183799J. Med. Genet.2006Tiranti V et al.ETHE1 mutations are specific to ethylmalonic encephalopathy.