{"orpha":51208,"name":"Formiminoglutamic aciduria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FTCD deficiency","Formiminotransferase cyclodeaminase deficiency","Glutamate formiminotransferase deficiency"],"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.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-51208/","orphanet_url":"https://www.orpha.net/en/disease/detail/51208","names":{"fr":{"name":"Acidurie formiminoglutamique","synonyms":["Déficit en FTCD","Déficit en formiminotransférase cyclodésaminase","Déficit en glutamate formiminotransférase"],"definition":"Anomalie rare du métabolisme et du transport des folates caractérisée, sur le plan biochimique, par un taux élevé de formiminoglutamate dans l'urine et le plasma dû à un déficit en glutamate formiminotransférase, associée à un phénotype clinique très variable, oscillant entre un retard de développement, une déficience intellectuelle et une anémie et un développement normal sans anémie. Une augmentation de l'acide hydantoïne-5-propionique et/ou des folates dans le plasma peut également être associée."},"de":{"name":"Formiminoglutaminsäure-Azidurie","synonyms":["FTCD-Mangel","Formimidoyltransferase-Cyclodeaminase-Mangel","Formiminoglutaminsäure-Krankheit","Glutamat-Formiminotransferase-Mangel"],"definition":"Eine seltene Störung des Folsäurestoffwechsels und -transports, die biochemisch durch erhöhten Formiminoglutamatgehalt in Urin und Plasma aufgrund eines Glutamat-Formiminotransferase-Mangels gekennzeichnet ist und mit einem sehr variablen klinischen Phänotyp einhergeht, der von Entwicklungsverzögerung, intellektueller Entwicklungsstörung und Anämie bis hin zu normaler Entwicklung ohne Anämie reicht. Erhöhte Hydantoin-5-Propionsäure und/oder Folat im Plasma können ebenfalls damit verbunden sein."},"es":{"name":"Aciduria formiminoglutámica","synonyms":["Deficiencia de FTCD","Deficiencia de formiminotransferasa ciclodeaminasa","Deficiencia de glutamato formiminotransferasa"],"definition":"Es un trastorno poco frecuente del metabolismo y del transporte del folato caracterizado bioquímicamente por niveles elevados de formiminoglutamato en orina y en plasma debido a una deficiencia de la glutamato formimino-transferasa. Está asociado a un fenotipo clínico altamente variable, que va desde un retraso del desarrollo, discapacidad intelectual y anemia hasta un desarrollo normal sin anemia. El trastorno también puede asociar un aumento plasmático de ácido 5-hidantoína propiónico y/o folato."},"it":{"name":"Aciduria formiminoglutamica","synonyms":["Deficit di FTCD","Deficit di formiminotransferasi ciclodeaminasi","Deficit di glutammato formiminotransferasi"],"definition":"È un difetto raro del metabolismo e del trasporto dei folati caratterizzato, dal punto di vista biochimico, da livelli elevati di formiminoglutammato nelle urine e nel plasma, secondari a un deficit di glutammato formiminotransferasi. Il quadro clinico è molto variabile, e comprende il ritardo dello sviluppo con disabilità intellettiva ed anemia, fino ad uno sviluppo normale senza anemia. Può associarsi a livelli elevati di acido idantoina-5-propionico e/o di folati nel plasma."},"nl":{"name":"Formiminoglutaminezuuracidurie","synonyms":["FTCD-deficiëntie","Formiminotransferase cyclodeaminasedeficiëntie","Glutamaat formiminotransferasedeficiëntie"],"definition":"Een zeldzame stoornis van het folaatmetabolisme en -transport, biochemisch gekarakteriseerd door een toename van formiminoglutamaat in de urine en het plasma als gevolg van deficiëntie van glutamaat-formiminotransferase, geassocieerd met een zeer variabel klinisch fenotype, gaande van ontwikkelingsachterstand, intellectuele achterstand en anemie tot normale ontwikkeling zonder anemie. Verhoogde hoeveelheden hydantoïne-5-propionzuur en/of folaat in het plasma kunnen ook geassocieerd zijn."},"pt":{"name":"Acidúria formiminoglutâmica","synonyms":["Deficiência de glutamato formiminotransferase"]},"pl":{"name":"Kwasica formiminoglutaminowa","synonyms":["Glutamate formiminotransferase deficiency","Niedobór cyklodeaminazy formiminotransferazy","Niedobór FTCD"]},"cs":{"name":"Formiminoglutamová acidurie","synonyms":["Deficit FTCD","Deficit formiminotransferáza-cyklodeaminázy","Deficit glutamát formimidoyltransferázy"]},"uk":{"name":"Форміноглутамінова ацидурія","synonyms":["Дефіцит формімінотрансферази циклоамінотрансферази","Дефіцит FTCD","Дефіцит глутаматформимінотрансферази"],"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."},"zh":{"name":"亚胺基甲基谷氨酸尿症","synonyms":["亚胺甲基转移环脱氨酶缺乏症"]},"tr":{"name":"Formiminoglutamik asidüri","synonyms":["FTCD eksikliği","Glutamat formiminotransferaz eksikliği","Formiminotransferaz siklodeaminaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"229100","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E70.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A02.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"664824338"},{"source":"MONDO","code":"0009240","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537425","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268609","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9279","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":98408,"name":"Constitutional megaloblastic anemia due to folate metabolism disorder","classifications":[156,194]},{"orpha":285657,"name":"Disorder of folate metabolism and transport","classifications":[150,156]}],"children":[],"genes":[{"symbol":"FTCD","name":"formimidoyltransferase cyclodeaminase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"12815595[PMID]","hgnc":"3974","ensembl":"ENSG00000160282","omim":"606806","loci":["21q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-09-07","source":"29178637[PMID]_30740726[PMID]","terms":[{"hpo":"HP:0010904","label":"Abnormal circulating histidine concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012335","label":"Abnormality of folate metabolism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0500170","label":"Abnormal concentration of acylcarnitine in the urine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032164","label":"Increased blood folate concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001889","label":"Megaloblastic anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011342","label":"Mild global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Very rare (<4-1%)","criteria":null}]}}