Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare disorder of folate metabolism and transport characterized, biochemically, by elevated formiminoglutamate in urine and plasma due to glutamate formiminotransferase deficiency, associated with a highly variable clinical phenotype, ranging from developmental delay, intellectual disability and anemia to normal development without anemia. Increased hydantoin-5-propionic acid and/or folate in plasma may also be associated. Disease data Classification Disease Synonyms FTCD deficiency Glutamate formiminotransferase deficiency Niedobór cyklodeaminazy formiminotransferazy Niedobór FTCD Formiminotransferase cyclodeaminase deficiency Glutamate formiminotransferase deficiency ORPHA code 51208 OMIM code 229100 ICD10 code E70.8 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl