{"orpha":268184,"name":"Thiamine-responsive maple syrup urine disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Thiamine-responsive BCKD deficiency","Thiamine-responsive MSUD","Thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency"],"definition":"Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD but that responds positively to treatment with thiamine.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-268184/","orphanet_url":"https://www.orpha.net/en/disease/detail/268184","names":{"fr":{"name":"Maladie des urines sirop d'érable, forme sensible à la thiamine","synonyms":["Cétoacidurie à chaînes ramifiées sensible à la thiamine","Déficit en BCKD, forme sensible à la thiamine","Déficit en complexe de la déshydrogénase des alpha-cétoacides à chaîne ramifiée, forme sensible à la thiamine","Leucinose sensible à la thiamine","MSUD sensible à la thiamine","Maladie des urines à odeur de sirop d'érable, forme sensible à la thiamine"],"definition":"La maladie du sirop d'érable sensible à la thiamine (MSUD sensible à la thiamine) est une variante moins sévère de la MSUD. Elle se manifeste par un phénotype similaire à celui de la MSUD intermédiaire mais se distingue par une réponse positive au traitement par la thiamine."},"de":{"name":"Ahornsirup-Krankheit, Thiamin-responsive","synonyms":["BCKD-Mangel, Thiamin-responsiver","MSUD, Thiamin-responsiv","Verzweigtkettige alpha-Ketosäuredehydrogenase-Mangel, Thiamin-responsiv"],"definition":"Die Thiamin-responsive Ahornsirupkrankheit (Thiamin-responsive MSUD) ist eine weniger schwerwiegende Variante der MSUD (s. dort), die sich mit einem Phänotyp ähnlich dem der intermediären Form (s. dort) manifestiert, aber positiv auf ein Thiaminbehandlung reagiert."},"es":{"name":"Enfermedad de la orina con olor a jarabe de arce sensible a la tiamina","synonyms":["Deficiencia de BCKD sensible a la tiamina","Deficiencia de alfa-cetoácido deshidrogenasa de cadena ramificada sensible a la tiamina","EOOJA sensible a la tiamina","MSUD sensible a la tiamina"],"definition":"La enfermedad de la orina con olor a jarabe de arce sensible a tiamina (MSUD sensible a tiamina) es una variante menos grave de la MSUD (véase este término) que se manifiesta con un fenotipo similar al de la MSUD intermedia (véase este término) pero que responde favorablemente al tratamiento con tiamina."},"it":{"name":"Malattia delle urine a sciroppo di acero tiamina-sensibile","synonyms":["Deficit della 2-chetoacido deidrogenasi a catena ramificata tiamina-sensibile","Deficit di BCKD tiamina-sensibile","MSUD tiamina-sensibile"],"definition":"La malattia delle urine a sciroppo d'acero tiamina-sensibile (MSUD tiamina-sensibile) è una variante meno grave della MSUD (si veda questo termine), che si manifesta con un fenotipo simile a quello della MSUD intermedia (si veda questo termine) e risponde positivamente al trattamento con tiamina."},"nl":{"name":"Thiamineresponsieve maple syrup urine disease","synonyms":["Thiamineresponsieve BCKD-deficiëntie","Thiamineresponsieve MSUD","Thiamineresponsieve ahornsiroopurineziekte","Thiamineresponsieve deficiëntie van vertakte keten-alfa-ketozuurdehydrogenase","Thiamineresponsieve esdoornsiroopurineziekte"],"definition":"Thiamineresponsieve ahornsiroop urine ziekte (MSUD; zie deze term) is een minder ernstige variant van MSUD die zich manifesteert met een fenotype vergelijkbaar met intermediaire MSUD (zie deze term), maar die positief reageert op de behandeling met thiamine."},"pt":{"name":"Doença da urina xarope de bordo sensível à tiamina","synonyms":["Deficiência de BCKD sensível à tiamina","Deficiência de desidrogenase dos alfa-cetoácidos de cadeia ramificada sensível à tiamina","MSUD sensível à tiamina"]},"pl":{"name":"Choroba syropu klonowego wrażliwa na tiaminę","synonyms":["MSUD wrażliwa na tiaminę","Niedobór BCKD wrażliwy na tiaminę","Niedobór dehydrogenazy ketokwasów rozgałęzionych wrażliwy na tiaminę"]},"cs":{"name":"Leucinóza reagující na thiamin","synonyms":["Nemoc javorového sirupu reagující na thiamin","Deficit BCKD reagující na thiamin","MSUD reagující na thiamin","Deficit dehydrogenázy větvených 2-ketokyselin, reagující na thiamin"]},"uk":{"name":"Тіамін-чутлива хвороба сечі кленового сиропу","synonyms":["Тіамінчутливий дефіцит печінково-ниркової недостатності","Дефіцит тіамінчутливої альфа-кетокислотної дегідрогенази з розгалуженим ланцюгом","Тіаміно-чутливий MSUD"],"definition":"Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD (see this term) that manifests with a phenotype similar to intermediate MSUD (see this term) but that responds positively to treatment with thiamine."},"zh":{"name":"硫胺素反应性枫糖尿病","synonyms":["硫胺素反应性支链α酮酸脱氢酶缺乏症"],"definition":"硫胺素反应性枫糖浆尿病(硫胺素反应性MSUD)是MSUD的一种不太严重的变种(见该词条)，其表型与中间型MSUD相似(见该词条)，但对硫胺素治疗呈阳性反应。"},"tr":{"name":"Tiamine duyarlı akçaağaç şurubu idrar hastalığı","synonyms":["Tiamine-duyarlı MSUD","Tiamine-duyarlı BCKD eksikliği","Tiamine-duyarlı dallı zincirli alfa-ketoasit dehidrojenaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"248600","qualifier":"NTBT","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":"511945220"},{"source":"MONDO","code":"0017054","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751285","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":"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"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":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}