Glutamate formiminotransferase deficiency
is an inherited metabolic disorder that affects physical and mental development. There are two forms of this condition, a mild form and a severe form. People with the mild form have minor delays in physical and mental development and may have mild intellectual disability. They also have unusually high levels of a molecule called formiminoglutamate (FIGLU) in their urine. Individuals with the severe form have profound intellectual disability, delayed development of motor skills (sitting, standing, and walking) and megaloblastic anemia
. In addition to FIGLU in their urine, they have elevated amounts of certain B vitamins (called folates) in their blood. Glutamate formiminotransferase deficiency is caused by mutations in the FTCD
gene. It is inherited in an autosomal recessive
pattern. There are currently no treatments known to prevent or delay the signs and symptoms of glutamate formiminotransferase deficiency.
Last updated: 8/10/2016