Human genes for glutamate formiminotransferase deficiency
Glutamate formiminotransferase deficiency [DOID:0111679]
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 FTCD on chromosome 21q22.3.
Synonyms: glutamate formiminotransferase deficiency, DOID:0111679, glutamate formiminotransferase deficiencies, Arakawa syndrome 1, FIGLUria ...