{"orpha":268162,"name":"Intermediate maple syrup urine disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Intermediate BCKD deficiency","Intermediate MSUD","Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency"],"definition":"Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-268162/","orphanet_url":"https://www.orpha.net/en/disease/detail/268162","names":{"fr":{"name":"Maladie des urines sirop d'érable, forme intermédiaire","synonyms":["MSUD intermédiaire","Maladie des urines à odeur de sirop d'érable, forme intermédiaire","Cétoacidurie à chaînes ramifiées intermédiaire","Déficit en BCKD, forme intermédiaire","Déficit en complexe de la déshydrogénase des alpha-cétoacides à chaîne ramifiée, forme intermédiaire","Leucinose intermédiaire"],"definition":"La maladie du sirop d'érable intermédiaire (MSUD intermédiaire) est une forme modérée de MSUD caractérisée par une élévation persistante des cétoacides et des acides aminés à chaîne ramifiée (AACR), avec des épisodes de décompensation moins fréquents voire absents."},"de":{"name":"Ahornsirup-Krankheit, intermediäre","synonyms":["BCKD-Mangel, intermediärer","MSUD, intermediär","Verzweigtkettige alpha-Ketosäuredehydrogenase-Mangel, intermediär"],"definition":"Die Intermediärform der Ahornsirupkrankheit (intermediäre MSUD) ist eine mildere Form der MSUD (s. diesen Terminus) und zeichnet sich durch persistierend erhöhte verzweigtkettige Aminosäuren und Ketosäuren aber seltenere oder gar keine Stoffwechselentgleisungen aus."},"es":{"name":"Enfermedad de la orina con olor a jarabe de arce intermedia","synonyms":["Deficiencia de BCKD intermedia","Deficiencia de alfa-cetoácido deshidrogenasa de cadena ramificada intermedia","EOOJA intermedia","MSUD intermedia"],"definition":"La enfermedad de la orina con olor a jarabe de arce intermedia (MSUD intermedia) es una forma más leve de MSUD (véase este término) caracterizada por valores permanentemente elevados de aminoácidos ramificados y cetoácidos, pero que presentan pocos o ningún episodio agudo de descompensación."},"it":{"name":"Malattia delle urine a sciroppo di acero intermedia","synonyms":["Deficit della 2-chetoacido deidrogenasi a catena ramificata, tipo intermedio","Deficit intermedio di BCKD","MSUD intermedia"],"definition":"La malattia delle urine a sciroppo d'acero intermedia (MSUD intermedia) è una forma più lieve di MSUD (si veda questo termine), caratterizzata da un aumento persistente degli aminoacidi a catena ramificata (BCAA) e dei chetoacidi, con pochi o assenti episodi di scompenso acuto."},"nl":{"name":"Intermediaire maple syrup urine disease","synonyms":["Deficiëntie van intermediaire vertakte keten-alfa-ketozuurdehydrogenase","Intermediaire BCKD-deficiëntie","Intermediaire MSUD","Intermediaire ahornsiroopurineziekte","Intermediaire esdoornsiroopurineziekte"],"definition":"Intermediaire ahornsiroop urine ziekte (MSUD; zie deze term) is een mildere vorm van MSUD gekenmerkt door een permanent verhoogde concentratie aan vertakte keten aminozuren en ketozuren, maar minder of geen acute episoden van decompensatie."},"pt":{"name":"Doença da urina xarope de bordo intermédia","synonyms":["Deficiência de BCKD intermédia","Deficiência de desidrogenase dos alfa-cetoácidos de cadeia ramificada intermédia","MSUD intermédia"]},"pl":{"name":"Postać pośrednia choroby syropu klonowego","synonyms":["Pośredni Niedobór BCKD","Pośredni Niedobór dehydrogenazy ketokwasów rozgałęzionych","Postać pośrednia MSUD"]},"cs":{"name":"Středně těžká leucinóza","synonyms":["Středně těžká nemoc javorového sirupu","Středně těžký deficit BCKD","Středně těžká MSUD","Středně těžký deficit dehydrogenázy větvených 2-ketokyselin"]},"uk":{"name":"Помірно виражена хвороба сечі кленового сиропу","synonyms":["Проміжний дефіцит BCKD","Дефіцит альфа-кетокислотної дегідрогенази проміжного розгалуженого ланцюга","Проміжний MSUD"],"definition":"Intermediate maple syrup urine disease (intermediate MSUD) is a milder form of MSUD (see this term) characterized by persistently raised branched-chain amino acids (BCAAs) and ketoacids, but fewer or no acute episodes of decompensation."},"zh":{"name":"中度枫糖尿病","synonyms":["中间型支链α酮酸脱氢酶缺乏症"],"definition":"中间型枫糖浆尿病(中级MSUD)是一种较轻的MSUD(见该词条)，其特征是支链氨基酸(BCAA)和酮酸持续升高，但很少或没有急性代偿发作。"},"tr":{"name":"Orta düzey akçaağaç şurubu idrar hastalığı","synonyms":["Orta düzey MSUD","Orta düzey BCKD eksikliği","Orta düzey dallı zincirli alfa-ketoasit dehidrojenaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"248600","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615135","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":"1234820241"},{"source":"MONDO","code":"0017052","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1621920","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"]},{"symbol":"PPM1K","name":"protein phosphatase, Mg2+/Mn2+ dependent 1K","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23086801[PMID]","hgnc":"25415","ensembl":"ENSG00000163644","omim":"611065","loci":["4q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","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}