Formiminoglutamic aciduria (Q83936): Difference between revisions

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