Glutamate formiminotransferase deficiency

Formiminoglutamic acidemia, FIGLU, Arakawa syndrome 1, Formiminotransferase deficiency

Overview

Type of disease: Rare conditions

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 sever 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. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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