formiminoglutamicaciduria; glutamate formiminotransferase deficiency

Genetics

• autosomal recessive
• associated with defects in FTCD gene

Clinical manifestations

• in severe phenotype
  • megaloblastic anemia
  • mental retardation
• in mild phenotype
  • mild developmental delay
  • no hematological abnormalities

Laboratory

• elevated levels of formiminoglutamate in urine with or without administration of histidine, depending on phenotype

More general terms

• amino acid inborn error of metabolism

Database

• OMIM: https://mirror.omim.org/entry/229100