" /> Formiminoglutamic aciduria - CISMeF





Preferred Label : Formiminoglutamic aciduria;

ICD-11 definition : Formiminoglutamic aciduria, in its moderate form and in the absence of histadine 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. Formiminoglutamic aciduria is an autosomal recessive disease caused by a deficiency of glutamate formiminotransferase-cyclodeaminase (FTCD), an enzyme involved folic acid metabolism.;

ICD-11 synonym : Glutamate formiminotransferase deficiency; FTCD - [Formiminotransferase cyclodeaminase deficiency]; FIGLU - [Formiminoglutamic aciduria]; Formiminotransferase cyclodeaminase deficiency;

ICD-11 acronym : FIGLU; FTCD;

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Formiminoglutamic aciduria, in its moderate form and in the absence of histadine 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. Formiminoglutamic aciduria is an autosomal recessive disease caused by a deficiency of glutamate formiminotransferase-cyclodeaminase (FTCD), an enzyme involved folic acid metabolism.

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07/05/2025


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