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Formiminoglutamic aciduria

ORPHA51208
Synonym(s) FTCD deficiency
Formiminotransferase cyclodeaminase deficiency
Glutamate formiminotransferase deficiency
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Childhood
ICD-10
  • E70.8
OMIM
UMLS -
MeSH -
MedDRA -

Summary

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. Formiminoglutamic aciduria is an autosomal recessive disease caused by a deficiency of glutamate formiminotransferase-cyclodeaminase (FTCD), an enzyme involved folic acid metabolism.


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