Fumarase Deficiency (FMRD)

Fumarase Deficiency, also known as fumaric aciduria, is related to fumarate hydratase deficiency and hereditary leiomyomatosis and renal cell cancer, and has symptoms including seizures An important gene associated with Fumarase Deficiency is FH (Fumarate Hydratase), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The drugs Axitinib and Protein Kinase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include brain and skin, and related phenotypes are agenesis of corpus callosum and polyhydramnios