glutamate formiminotransferase deficiency (DOID:0111679)
Alliance: disease page
Synonyms: Arakawa syndrome 1; FIGLUria; formiminoglutamic acidemia; formiminoglutamic aciduria; formiminotransferase cyclodeaminase deficiency; formiminotransferase deficiency syndrome; FTCD deficiency
Alt IDs: OMIM:229100, MESH:C537425, ORDO:51208, UMLS_CUI:C0268609
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.