has material basis in germline mutation in FTCD megaloblastic anemia formiminoglutamic aciduria https://www.malacards.org/card/glutamate_formiminotransferase_deficiency ICD9:270.8 GARD:0009279 Formiminoglutamicaciduria (FIGLU-Uria) SCTID:59761008 MESH:C537425 MEDGEN:82823 Arakawa syndrome 1 UMLS:C0268609 Orphanet:51208 FTCD deficiency formiminoglutamic acidemia formiminotransferase deficiency syndrome icd11.foundation:664824338 formiminotransferase cyclodeaminase deficiency glutamate formiminotransferase deficiency MONDO:0009240 Figlu-Uria formiminotransferase deficiency DOID:0111679 formiminoglutamic aciduria OMIM:229100 Formiminoglutamic aciduria, in its moderate form and in the absence of histidine administration, is characterized by mild developmental delay and elevated concentrations of formiminoglutamate (FIGLU) in the urine. A more severe phenotype has been described in five members of a Japanese family and included severe intellectual deficit, psychomotor retardation and megaloblastic anemia. hereditary anemia disorder of folate metabolism and transport