KEGG   DISEASE: H01262Help
Entry
H01262                      Disease                                

Name
Formiminotransferase deficiency
Description
Formiminotransferase deficiency is an autosomal recessive disorder of folate metabolism. It is due to defects in the bifunctional enzyme glutamate formiminotransferase-cyclodeaminase (FTCD). Features of a severe phenotype include megaloblastic anemia and mental retardation. Features of a mild phenotype include mild developmental delay and no hematological abnormalities.
Category
Inherited metabolic disease
BRITE hierarchy
Pathway
Histidine metabolism
One carbon pool by folate
Gene
FTCD [HSA:10841] [KO:K13990]
Marker
Elevated levels of formiminoglutamate [CPD:C00439] in urine
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Hilton JF, Christensen KE, Watkins D, Raby BA, Renaud Y, de la Luna S, Estivill X, MacKenzie RE, Hudson TJ, Rosenblatt DS
  Title
The molecular basis of glutamate formiminotransferase deficiency.
  Journal
Hum Mutat 22:67-73 (2003)

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