fumarate(redirected from E367)
Also found in: Dictionary.
a salt of fumaric acid.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.
fumarate hydrataseAn enzyme encoded by FH on chromosome 1q42.1, which catalyses the reversible hydration of fumarate to S-malate. The mitochondrial isoform is involved in the Krebs (citric acid) cycle; the cytosol isoform is involved in amino-acid-reductive (carboxylation cycle—CO2 fixation) metabolism.
FH mutations can cause fumarase deficiency and lead to progressive encephalopathy, see table.
Fumarase deficiency in fetus
Polyhydramnios, brain defects.
Fumarase deficiency in neonate
Severe neurologic defects, poor feeding, failure to thrive, and hypotonia; attributed to defects in the mitochondrial and cytosol isoforms.
Fumarate hydratase germ-line mutations trigger an array of tumours: Uterine leiomyomatosis and renal-cell carcinoma (Reed’s syndrome).
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.