{"orpha":268145,"name":"Classic maple syrup urine disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Classic BCKD deficiency","Classic MSUD","Classic branched-chain alpha-ketoacid dehydrogenase deficiency","Classic branched-chain ketoaciduria"],"definition":"Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-268145/","orphanet_url":"https://www.orpha.net/en/disease/detail/268145","names":{"fr":{"name":"Maladie des urines sirop d'érable, forme classique","synonyms":["Cétoacidurie à chaînes ramifiées classique","Déficit en BCKD, forme classique","Déficit en complexe de la déshydrogénase des alpha-cétoacides à chaîne ramifiée, forme classique","Leucinose classique","MSUD classique","Maladie des urines à odeur de sirop d'érable, forme classique"],"definition":"La maladie du sirop d'érable classique (MSUD classique) est la forme la plus sévère et probablement la plus commune de la MSUD, caractérisée par une odeur de sirop d'érable dans le cérumen à la naissance, des difficultés d'alimentation, une léthargie et une dystonie focale, suivie d'une encéphalopathie progressive et d'une insuffisance respiratoire centrale en l'absence de traitement."},"de":{"name":"Ahornsirup-Krankheit, klassische","synonyms":["BCKD-Mangel, klassischer","MSUD, klassisch","Verzweigtketten-Ketoazidurie, klassische","Verzweigtketten-Ketonurie, klassische","Verzweigtkettige alpha-Ketosäuredehydrogenase-Mangel, klassisch"],"definition":"Die klassische Ahornsirupkrankheit (klassische MSUD) ist die schwerwiegendste und wahrscheinlich häufigste Form der MSUD (s. diesen Terminus), die charakterisiert ist durch Ahornsirupgeruch im Ohrenschmalz bei der Geburt, geringe Nahrungsaufnahme, Lethargie und fokale Dystonie gefolgt von einer progressiven Enzephalopathie und zentralem Atmungsversagen, falls sie unbehandelt bleibt."},"es":{"name":"Enfermedad de la orina con olor a jarabe de arce clásica","synonyms":["Cetoaciduria de cadena ramificada clásica","Deficiencia de BCKD clásica","Deficiencia de alfa-cetoácido deshidrogenasa de cadena ramificada clásica","EOOJA clásica","MSUD clásica"],"definition":"La enfermedad de la orina con olor a jarabe de arce clásica (MSUD clásica) es la forma más grave y probablemente más común de MSUD (véase este término), y está caracterizada por un olor a jarabe de arce en el cerumen al nacer, rechazo de las tomas, letargo y distonía focal, seguido por encefalopatía progresiva e insuficiencia respiratoria central si no se trata."},"it":{"name":"Malattia delle urine a sciroppo di acero classica","synonyms":["Deficit classico di BCKD","Deficit della 2-chetoacido deidrogenasi a catena ramificata, tipo classico","MSUD classica"],"definition":"La malattia delle urine a sciroppo d'acero classica (MSUD classica) è la forma più grave e probabilmente più frequente della MSUD (si veda questo termine) caratterizzata dal caratteristico odore di sciroppo d'acero del cerume alla nascita, da difficoltà di alimentazione, letargia e distonia focale, seguiti da encefalopatia progressiva ed insufficienza respiratoria centrale in assenza di trattamento."},"nl":{"name":"Klassieke maple syrup urine disease","synonyms":["Klassieke BCKD-deficiëntie","Klassieke MSUD","Klassieke ahornsiroopurineziekte","Klassieke deficiëntie van vertakte keten-alfa-ketozuurdehydrogenase","Klassieke esdoornsiroopurineziekte","Klassieke vertakte keten-ketoacidurie"],"definition":"Klassieke ahornsiroop urine ziekte (MSUD; zie deze term) is de meest ernstige en waarschijnlijk meest voorkomende vorm van MSUD gekenmerkt door een geur van ahornsiroop van het oorsmeer bij de geboorte, slecht eten, lethargie en focale dystonie, gevolgd door progressieve encefalopathie en centrale respiratoire insufficiëntie indien onbehandeld."},"pt":{"name":"Doença da urina xarope de bordo clássica","synonyms":["Cetoacidúria de cadeia ramificada clássica","Deficiência de BCKD clássica","Deficiência de desidrogenase dos alfa-cetoácidos de cadeia ramificada clássica","MSUD clássica"]},"pl":{"name":"Klasyczna choroba syropu klonowego","synonyms":["Klasyczna ketoacyduria łańcuchów rozgałęzionych","Klasyczna MSUD","Klasyczny Niedobór BCKD","Klasyczny Niedobór dehydrogenazy ketokwasów rozgałęzionych"]},"cs":{"name":"Klasická leucinóza","synonyms":["Klasická nemoc javorového sirupu","Klasický deficit BCKD","Klasická MSUD","Klasický deficit dehydrogenázy větvených 2-ketokyselin"]},"uk":{"name":"Класична хвороба сечі кленового сиропу","synonyms":["Класична недостатність BCKD","Класичний дефіцит альфа-кетокислотної дегідрогенази з розгалуженим ланцюгом","Класична розгалужена кетоацидурія","Класичний MSUD"],"definition":"Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD (see this term) characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated."},"zh":{"name":"经典枫糖尿病","synonyms":["经典型支链α酮酸脱氢酶缺乏症"],"definition":"典型的枫糖浆尿病(经典的MSUD)是MSUD最严重也可能是最常见的形式(见该词条)，其特征是出生时耳垢中有枫糖浆气味，喂养不良，嗜睡和局灶性肌张力障碍，如果不治疗的话，会出现进行性脑病和中枢呼吸衰竭。"},"tr":{"name":"Klasik akçaağaç şurubu idrar hastalığı","synonyms":["Klasik MSUD","Klasik BCKD eksikliği","Klasik dallı zincirli ketoasidüri","Klasik dallı zincirli alfa-ketoasit dehidrojenaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"248600","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620698","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620699","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.D0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1568461954"},{"source":"MONDO","code":"0017051","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268568","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":511,"name":"Maple syrup urine disease","classifications":[150,156,181]}],"children":[],"genes":[{"symbol":"BCKDHB","name":"branched chain keto acid dehydrogenase E1 subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301495[PMID]","hgnc":"987","ensembl":"ENSG00000083123","omim":"248611","loci":["6q14.1"]},{"symbol":"DBT","name":"dihydrolipoamide branched chain transacylase E2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301495[PMID]","hgnc":"2698","ensembl":"ENSG00000137992","omim":"248610","loci":["1p21.2"]},{"symbol":"BCKDHA","name":"branched chain keto acid dehydrogenase E1 subunit alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301495[PMID]","hgnc":"986","ensembl":"ENSG00000248098","omim":"608348","loci":["19q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}