Formiminoglutamic aciduria

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.

Also known as: FTCD deficiency, formiminoglutamic aciduria, formiminotransferase cyclodeaminase deficiency, glutamate formiminotransferase deficiency, Arakawa syndrome 1, Figlu-Uria, Formiminoglutamicaciduria (FIGLU-Uria), formiminoglutamic acidemia

64 clinical trials for this condition and its sub-types.