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
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H01262  Formiminotransferase deficiency
Human diseases in ICD-10 classification [BR:br08403]
 4. Endocrine, nutritional and metabolic diseases (E00-E90)
  E70-E90  Metabolic disorders
   E70  Disorders of aromatic amino-acid metabolism
    H01262  Formiminotransferase deficiency
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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