title: Infantile metabolic encephalopathy due to fumarase deficiency.
abstract: Fumarase deficiency is a very rare inborn error of metabolism caused by decreased activity of fumarate hydratase enzyme. We describe a fumarase-deficient infant who presented with encephalopathy, metabolic crisis, psychomotor retardation, hypotonia, seizures, and facial dysmorphism. To our knowledge, this is the first Indian child to be described with fumarase deficiency.
authors: Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
authors: Arushi Gahlot
authors: AG
authors: Saini
authors: Pratibha
authors: P
authors: Singhi
mesh_terms: D001928:Brain Diseases, Metabolic / Q000175:diagnosis / Q000209:etiology*; D002658:Developmental Disabilities / Q000175:diagnosis / Q000209:etiology*; D004569:Electroencephalography; D005649:Fumarate Hydratase / Q000172:deficiency; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications*; D009123:Muscle Hypotonia / Q000150:complications*; D011596:Psychomotor Disorders / Q000150:complications*
chemical_list: D005649:Fumarate Hydratase