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Disease Info Card
Ethylmalonic Encephalopathy
Information about Ethylmalonic Encephalopathy: characteristics, related genes and pathways, plus antibodies you can use for research. This page is being enriched constantly, if you see some information you would like this page to include please send your suggestions to us.
Overview of Ethylmalonic Encephalopathy
Most recent studies have shown that Ethylmalonic Encephalopathy shares some biological mechanisms with acidemia, brain-diseases, brain-diseases-metabolic, brain-diseases-metabolic-inborn, brain-injuries, chronic-diarrhea, cytochrome-c-oxidase-deficiency, deficiency-of-butyryl-coa-dehydrogenase, developmental-delay-(disorder), diarrhea, encephalopathies, inborn-errors-of-metabolism, metabolic-diseases, multiple-acyl-coenzyme-a-dehydrogenase-deficiency, muscle-hypotonia, petechiae, purpura.
Among the many pathways, these few ones have gauged particular interests from scientists studying Ethylmalonic Encephalopathy, and have been seen in publications frequently: Cellular Homeostasis, Cellularization, Embryo Development, Endosperm Development, Excretion, Fatty Acid Oxidation, Inflammatory Response, Insemination, Ion Transport, Malate Transport, Oxidative Phosphorylation, Pathogenesis, Transport, Transsulfuration
Quite a number of genes have been found to play important roles in Ethylmalonic Encephalopathy, such as ACADS, CHKA, COX5A, COX8A, CPOX, CRYZ, CYCS, DDAH1, ETFA, ETHE1, HAGH, LDHB, MTCO1, MTCO2, MUC1, SLC31A1, TMEM176A, TST. See what Boster has to offer for the research of these genes by clicking the gene name links below and view a more detailed info card/product listing for that gene.
In a later update, we will include information such as current drugs and therapy solutions as well as on-going and past clinical trials for this disease. Plesae stay updated.