Diseases of the tricarboxylic acid cycle [DS:H01022] Mitochondrial disease [DS:H01427]
Description
Fumarase deficiency (fumaric aciduria) is a rare autosomal recessive metabolic disorder caused by deficient activity of fumarate hydratase (FH, fumarase), one of the constituent enzymes of the Krebs tricarboxylic acid cycle. Patients usually present early in infancy with a severe encephalopathy, including hypotonia, developmental retardation, and seizures. Many of them have died during the first several years of life.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C53 Inborn errors of energy metabolism
H02004 Fumarase deficiency
Pathway-based classification of diseases [BR:br08402]
Carbohydrate metabolism
nt06031 Citrate cycle and pyruvate metabolism
H02004 Fumarase deficiency
