{"orpha":65284,"name":"Biotin-thiamine-responsive basal ganglia disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["BBGD","BTBGD","Biotin-responsive basal ganglia disease"],"definition":"A rare genetic neurological disorder characterized by subacute encephalopathy with confusion, seizures, and movement disorder, often following a history of febrile illness. Imaging may reveal bilateral lesions in the basal ganglia. The disease usually becomes symptomatic in childhood and is life-threatening if left untreated, but symptoms can be reversed and progression prevented by treatment with high doses of biotin and thiamine.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-65284/","orphanet_url":"https://www.orpha.net/en/disease/detail/65284","names":{"fr":{"name":"Maladie des noyaux gris centraux sensible à la biotine et à la thiamine","synonyms":["BBGD","BTBGD","Maladie des ganglions de la base sensible à la biotine","Maladie des ganglions de la base sensible à la biotine et à la thiamine","Maladie des noyaux gris centraux sensible à la biotine"],"definition":"Maladie neurologique génétique rare caractérisée par une encéphalopathie subaiguë avec confusion, crises convulsives et mouvements anormaux, souvent avec un antécédent d'épisode fébrile. L'imagerie médicale peut mettre en évidence des lésions bilatérales dans les noyaux gris centraux. La maladie devient généralement symptomatique dans l'enfance et, en l'absence de traitement, met le pronostic vital en jeu. Cependant les symptômes peuvent être réversibles et la progression prévenue par un traitement à fortes doses de biotine et de thiamine."},"de":{"name":"Biotin-Thiamin-responsive Störung der Basalganglien","synonyms":["BBGD","BTBGD","Biotin-responsive Störung der Basalganglien"],"definition":"Eine seltene genetisch bedingte neurologische Störung, die durch eine subakute Enzephalopathie mit Verwirrtheit, Krampfanfällen und Bewegungsstörungen gekennzeichnet ist und häufig auf eine fiebrige Erkrankung in der Vorgeschichte folgt. Bei der Bildgebung können bilaterale Läsionen in den Basalganglien festgestellt werden. Die Krankheit wird in der Regel in der Kindheit symptomatisch und ist lebensbedrohlich, wenn sie unbehandelt bleibt. Die Symptome können jedoch durch eine Behandlung mit hohen Dosen von Biotin und Thiamin rückgängig gemacht und ein Fortschreiten verhindert werden."},"es":{"name":"Enfermedad de los ganglios basales sensible a la biotina-tiamina","synonyms":["BTBGD","Enfermedad de los ganglios basales sensible a la biotina","BBGD"],"definition":"Es un trastorno neurológico de origen genético poco frecuente caracterizado por una encefalopatía subaguda con confusión, crisis epilépticas y trastornos del movimiento, a menudo después de una enfermedad febril. La neuroimagen puede revelar lesiones bilaterales en los ganglios basales. Por lo general, la enfermedad produce síntomas en la infancia, siendo potencialmente mortal en ausencia de tratamiento, aunque los síntomas se pueden revertir y la progresión prevenir mediante el tratamiento con dosis elevadas de biotina y tiamina."},"it":{"name":"Malattia dei gangli basali sensibile alla biotina-tiamina","synonyms":["BBGD","BTBGD","Malattia dei gangli basali biotina-tiamina-sensibile"],"definition":"Si tratta di una malattia neurologica genetica rara, caratterizzata da encefalopatia subacuta associata a confusione, crisi epilettiche e disturbi del movimento, spesso successivi ad una malattia febbrile. Le neuroimmagini possono mostrare lesioni bilaterali nei gangli basali. Di solito la malattia esordisce nell'infanzia ed è potenzialmente letale se non trattata. Tuttavia, è possibile correggere i sintomi e prevenire la progressione con biotina e tiamina ad alto dosaggio."},"nl":{"name":"Biotine-thiamine-responsieve ziekte van basale ganglia","synonyms":["BBGD","BTBGD","Biotine-responsieve ziekte van basale ganglia"],"definition":"Een zeldzame, genetische neurologische aandoening, gekarakteriseerd door subacute encefalopathie met verwardheid, insulten, en bewegingsstoornis, vaak na een voorgeschiedenis met febriele ziekte. Beeldvorming kan bilaterale laesies in basale ganglia aantonen. De ziekte wordt meestal symptomatisch in de kindertijd en is zonder behandeling levensbedreigend, maar symptomen kunnen ongedaan gemaakt worden en progressie kan vermeden worden door behandeling met hoge doses biotine en thiamine."},"pt":{"name":"Doença dos gânglios basais sensível à biotina"},"pl":{"name":"Choroba zwojów podstawnych wrażliwa na biotynę","synonyms":["BBGD","BTBGD","Choroba zwojów podstawnych wrażliwa na biotynę-tiaminę"]},"cs":{"name":"Biotin-responzivní onemocnění bazálních ganglií","synonyms":["BBGD","BTBGD","Biotin-thiamin-responzivní onemocnění bazálních ganglií"]},"uk":{"name":"Біотин-тіамінозалежне захворювання базальних гангліїв","synonyms":["BBGD","Біотин-чутливе захворювання базальних гангліїв","BTBGD"],"definition":"A rare genetic neurological disorder characterized by subacute encephalopathy with confusion, seizures, and movement disorder, often following a history of febrile illness. Imaging may reveal bilateral lesions in the basal ganglia. The disease usually becomes symptomatic in childhood and is life-threatening if left untreated, but symptoms can be reversed and progression prevented by treatment with high doses of biotin and thiamine."},"zh":{"name":"生物素-硫铵素反应性基底节病","synonyms":["生物素反应性基底节病"]},"tr":{"name":"Biotin-tiamine duyarlı bazal gangliya hastalığı","synonyms":["BBGD","BTBGD","Biyotine duyarlı bazal gangliya hastalığı"]}},"xrefs":[{"source":"OMIM","code":"607483","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G93.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C63.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1776831202"},{"source":"MONDO","code":"0011841","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"11841","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537658","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1843807","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10237","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":298644,"name":"Disorder of thiamine metabolism and transport","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"SLC19A3","name":"solute carrier family 19 member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24260777[PMID]","hgnc":"16266","ensembl":"ENSG00000135917","omim":"606152","loci":["2q36.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":48.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}