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Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia.
It is caused by a deficiency of glutamate formiminotransferase-cyclodeaminase (FTCD), an enzyme involved folic acid metabolism.
Formiminoglutamic aciduria is an autosomal recessive disease.