{"orpha":308410,"name":"Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-308410/","orphanet_url":"https://www.orpha.net/en/disease/detail/308410","names":{"fr":{"name":"Syndrome d'autisme-épilepsie par défict en kinase déshydrogénase des cétoacides à chaînes ramifiées","definition":"Trouble rare du métabolisme des acides aminés à chaînes ramifiées caractérisé par une épilepsie, un autisme et une déficience intellectuelle apparaissant pendant l'enfance, avec des taux réduits d'acides aminés à chaîne ramifiée dans le plasma."},"de":{"name":"Autismus-Epilepsie-Syndrom durch Verzweigtketten-Ketosäuredehydrogenase-Kinase-Mangel"},"es":{"name":"Síndrome de autismo-epilepsia por deficiencia de la deshidrogenasa quinasa de cetoácidos de cadena ramificada","definition":"Es un trastorno poco frecuente del metabolismo de los aminoácidos de cadena ramificada caracterizado por epilepsia de inicio en la infancia, autismo y discapacidad intelectual con niveles séricos reducidos de aminoácidos de cadena ramificada."},"it":{"name":"Sindrome autismo-epilessia, da deficit di chetoacido deidrogenasi chinasi a catena ramificata","definition":"La sindrome che associa autismo ed epilessia da deficit di chetoacido deidrogenasi chinasi a catena ramificata è una malattia rara del metabolismo degli aminoacidi a catena ramificata. È caratterizzata da epilessia ad esordio infantile, autismo e disabilità intellettiva, associati a bassi livelli di aminoacidi a catena ramificata nel plasma."},"nl":{"name":"Autisme - epilepsie-syndroom door deficiëntie van vertakte keten-ketozuurdehydrogenasekinase","definition":"Een zeldzame stoornis van het vertakte keten-aminozuurmetabolisme, gekarakteriseerd door aanvang in de kindertijd van epilepsie, autisme en intellectuele achterstand met verlaagde gehaltes van vertakte keten-aminozuren in plasma."},"pt":{"name":"Síndrome autista-epilepsia por deficiência de desidrogenase cinase dos cetoácidos de cadeia ramificada"},"pl":{"name":"Zespół autyzm-padaczka z powodu niedoboru kinazy dehydrogenazy rozgałęzionych łańcuchów ketokwasów","definition":"*Zespół autyzm-padaczka z powodu niedoboru kinazy dehydrogenazy rozgałęzionych łańcuchów ketokwasów jest rzadkim zaburzeniem metabolizmu aminokwasów o rozgałęzionych łańcuchach, które charakteryzuje się padaczką, autyzmem i niepełnosprawnością intelektualną oraz zmniejszonym stężeniem aminokwasów o rozgałęzionych łańcuchach w surowicy krwi."},"cs":{"name":"Syndrom zahrnující autismus a epilepsii, způsobený deficitem kinázy a dehydrogenázy větvených ketokyselin"},"uk":{"name":"Синдром аутизму-епілепсії внаслідок дефіциту кінази кетокислотної дегідрогенази з розгалуженим ланцюгом","definition":"A rare disorder of branched-chain amino acid metabolism characterized by childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids."},"zh":{"name":"支链酮酸脱氢酶激酶缺乏症所致孤独症-癫痫综合征","definition":"一种罕见的支链氨基酸代谢紊乱，以儿童期癫痫、自闭症和智力障碍为特征，伴有血浆支链氨基酸水平降低。"},"tr":{"name":"Dallı zincirli ketoasit dehidrojenaz kinaz eksikliğine bağlı otizm-epilepsi sendromu"}},"xrefs":[{"source":"OMIM","code":"614923","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E71.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.DY","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0013970","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749908","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":225689,"name":"Amino acid or protein metabolism disease with epilepsy","classifications":[156,181]},{"orpha":79197,"name":"Disorder of branched-chain amino acid metabolism","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"BCKDK","name":"branched chain keto acid dehydrogenase kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22956686[PMID]","hgnc":"16902","ensembl":"ENSG00000103507","omim":"614901","loci":["16p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"24449431[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"24449431[PMID]"}],"phenotypes":null}