glutamate formiminotransferase deficiency

A vitamin metabolic disorder characterized by elevated formiminoglutamate in urine and plasma and variable intellectual, developmental, and hematological phenotypes that has_material_basis_in homozygous or compound heterozygous mutation in the FTCD gene on chr

A vitamin metabolic disorder characterized by elevated formiminoglutamate in urine and plasma and variable intellectual, developmental, and hematological phenotypes that has_material_basis_in homozygous or compound heterozygous mutation in the FTCD gene on chromosome 21q22.3.

Signs and symptoms

• Aminoaciduria
• Megaloblastic anemia
• Elevated urinary formiminoglutamic acid level
• Growth delay
• Intellectual disability
• Positive ferric chloride test
• Hypersegmentation of neutrophil nuclei

Also known as: Arakawa syndrome 1; FIGLU-uria; FTCD deficiency; formiminoglutamic acidemia; formiminoglutamic aciduria