Formiminoglutamic aciduria

What is Formiminoglutamic aciduria?

A rare disorder of folate metabolism and transport characterized, biochemically, by elevated formiminoglutamate in urine and plasma due to glutamate formiminotransferase deficiency, associated with a highly variable clinical phenotype, ranging from developmental delay, intellectual disability and anemia to normal development without anemia. Increased hydantoin-5-propionic acid and/or folate in plasma may also be associated.

Other condition names

  • FTCD deficiency
  • Formiminotransferase cyclodeaminase deficiency
  • Glutamate formiminotransferase deficiency

Inheritance type

Autosomal recessive

Age of Onset

  • Childhood
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