Ethylmalonic Encephalopathy

About the Disease
Encephalopathy, Ethylmalonic, also known as ethylmalonic encephalopathy, is related to acyl-coa dehydrogenase, short-chain, deficiency of and developmental and epileptic encephalopathy 3, and has symptoms including ataxia, seizures and abnormality of extrapyramidal motor function. An important gene associated with Encephalopathy, Ethylmalonic is ETHE1 (ETHE1 Persulfide Dioxygenase), and among its related pathways/superpathways are Metabolism and Regulation of expression of SLITs and ROBOs. Affiliated tissues include brain, skin and skeletal muscle, and related phenotypes are encephalopathy and ethylmalonic aciduria

Common Targets
ETHE1

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