Formiminotransferase deficiency

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.

Inherited metabolic disease

FTCD [HSA:10841] [KO:K13990]

Elevated levels of formiminoglutamate [CPD:C00439] in urine

PMID:12815595

Hilton JF, Christensen KE, Watkins D, Raby BA, Renaud Y, de la Luna S, Estivill X, MacKenzie RE, Hudson TJ, Rosenblatt DS

The molecular basis of glutamate formiminotransferase deficiency.

Hum Mutat 22:67-73 (2003)