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Formiminoglutamic aciduria

Disease definition

Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized 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 anemia.


  • 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: -

Additional information

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