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Formiminoglutamic aciduria

Disease definition

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.


Classification level: Disorder
  • Synonym(s):
    • FTCD deficiency
    • Formiminotransferase cyclodeaminase deficiency
    • Glutamate formiminotransferase deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E70.8
  • OMIM: 229100
  • UMLS: C0268609
  • MeSH: -
  • GARD: 9279
  • MedDRA: -
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