KEGG   DISEASE: Fumarase deficiency
Entry
H02004                      Disease                                

Name
Fumarase deficiency;
Fumaric aciduria
  Supergrp
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 disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Mitochondrial diseases
   H02004  Fumarase deficiency
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
hsa00020  Citrate cycle (TCA cycle)
Gene
FH [HSA:2271] [KO:K01679]
Other DBs
ICD-11: 5C53.1
ICD-10: E88.8
MeSH: C538191
OMIM: 606812
Reference
PMID:8200987
  Authors
Bourgeron T, Chretien D, Poggi-Bach J, Doonan S, Rabier D, Letouze P, Munnich A, Rotig A, Landrieu P, Rustin P
  Title
Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency.
  Journal
J Clin Invest 93:2514-8 (1994)
DOI:10.1172/JCI117261
Reference
  Authors
Kerrigan JF, Aleck KA, Tarby TJ, Bird CR, Heidenreich RA
  Title
Fumaric aciduria: clinical and imaging features.
  Journal
LinkDB

» Japanese version

DBGET integrated database retrieval system