Term Name:	glutamate formiminotransferase deficiency
Synonyms:	Arakawa syndrome 1, FIGLU-uria, formiminoglutamic acidemia, formiminoglutamic aciduria, formiminotransferase cyclodeaminase deficiency, formiminotransferase deficiency syndrome, FTCD deficiency
Definition:	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.
Ontology:	Human Disease [DOID:0111679]   ( DOID:0111679 )