{"orpha":268173,"name":"Intermittent maple syrup urine disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Intermittent BCKD deficiency","Intermittent MSUD","Intermittent branched-chain alpha-ketoacid dehydrogenase deficiency"],"definition":"Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-268173/","orphanet_url":"https://www.orpha.net/en/disease/detail/268173","names":{"fr":{"name":"Maladie des urines sirop d'érable, forme intermittente","synonyms":["Cétoacidurie à chaînes ramifiées intermittente","Déficit en BCKD, forme intermittente","Déficit en complexe de la déshydrogénase des alpha-cétoacides à chaîne ramifiée, forme intermittente","Leucinose intermittente","MSUD intermittente","Maladie des urines à odeur de sirop d'érable, forme intermittente"],"definition":"La maladie du sirop d'érable intermittente (MSUD intermittente) est une forme bénigne de MSUD dans laquelle les patients (en bon état général) sont asymptomatiques avec des niveaux normaux d'acides aminés à chaîne ramifiée (AACR), mais présentent un stress catabolique associé à un risque de décompensation aiguë avec acidocétose, pouvant entraîner un oedème cérébral et un coma en l'absence de traitement."},"de":{"name":"Ahornsirup-Krankheit, intermittierende","synonyms":["BCKD-Mangel, intermittierender","MSUD, intermittierend","Verzweigtkettige alpha-Ketosäuredehydrogenase-Mangel, intermittierend"],"definition":"Die intermittierende Ahornsirupkrankheit (intermittierende MSUD) ist eine milde Form der MSUD (diesen Terminus nachschlagen), bei der Patienten keine Symptome haben und normale Konzentration verzweigtkettiger Aminosäuren aufweisen, aber unter katabolem Stress eine akute Stoffwechselentleisung mit Ketoazidose riskieren, die zu Hirnödemem und Koma führen kann wenn sie unbehandelt bleibt."},"es":{"name":"Enfermedad de la orina con olor a jarabe de arce intermitente","synonyms":["Deficiencia de BCKD intermitente","Deficiencia de alfa-cetoácido deshidrogenasa de cadena ramificada intermitente","EOOJA intermitente","MSUD intermitente"],"definition":"La enfermedad de la orina con olor a jarabe de arce intermitente (MSUD intermitente) es una forma leve de MSUD (véase este término) en la que los pacientes (cuando están bien) son asintomáticos y presentan niveles normales de aminoácidos de cadena ramificada, pero en situaciones de estrés catabólico corren el riesgo de sufrir una descompensación aguda con cetoacidosis, que puede provocar edema cerebral y coma si no se trata."},"it":{"name":"Malattia delle urine a scrioppo di acero, tipo intermittente","synonyms":["Deficit della 2-chetoacido deidrogenasi a catena ramificata, tipo intermittente","Deficit intermittente della chetoacido deidrogenasi a catena ramificata","Deficit intermittente di BCKD","MSUD intermittente"],"definition":"La malattia delle urine a sciroppo d'acero intermittente (MSUD intermittente) è una forma lieve di MSUD (si veda questo termine), nella quale i pazienti (altrimenti sani) sono asintomatici con livelli normali di aminoacidi a catena ramificata (BCAA), ma sono a rischio di scompenso acuto associato a chetoacidosi in caso di stress catabolico che, in assenza di trattamento, può esitare nell'edema cerebrale e nel coma."},"nl":{"name":"Intermitterende maple syrup urine disease","synonyms":["Intermitterende BCKD-deficiëntie","Intermitterende MSUD","Intermitterende ahornsiroopurineziekte","Intermitterende deficiëntie van vertakte keten-alfa-ketozuurdehydrogenase","Intermitterende esdoornsiroopurineziekte"],"definition":"Intermitterende ahornsiroop urine ziekte (MSUD; zie deze term) is een milde vorm van MSUD waarbij patiënten (indien ze zich goed voelen) asymptomatisch zijn met normale concentraties van vertakte keten aminozuren (BCAAs), maar die bij katabole stress een risico hebben op acute decompensatie met ketoacidose, wat kan leiden tot cerebraal oedeem en coma indien onbehandeld."},"pt":{"name":"Doença da urina xarope de bordo intermitente","synonyms":["Deficiência de BCKD intermitente","Deficiência de desidrogenase dos alfa-cetoácidos de cadeia ramificada intermitente","MSUD intermitente"]},"pl":{"name":"Postać przerywana choroby syropu klonowego","synonyms":["Postać przerywana MSUD","Przerywany Niedobór BCKD","Przerywany Niedobór dehydrogenazy ketokwasów rozgałęzionych"]},"cs":{"name":"Intermitentní forma leucinózy","synonyms":["Intermitentní forma nemoci javorového sirupu","Intermitentní forma deficitu BCKD","Intermitentní forma MSUD","Intermitentní forma deficitu dehydrogenázy větvených 2-ketokyselin"]},"uk":{"name":"Інтермітуюча хвороба сечі кленового сиропу","synonyms":["Переривчастий дефіцит BCKD","Переривчастий дефіцит альфа-кетокислотної дегідрогенази з розгалуженим ланцюгом","Переривчастий MSUD"],"definition":"Intermittent maple syrup urine disease (intermittent MSUD) is a mild form of MSUD (see this term) where patients (when well) are asymptomatic with normal levels of branched-chain amino acids (BCAAs) but with catabolic stress are at risk of acute decompensation with ketoacidosis, which can lead to cerebral edema and coma if untreated."},"zh":{"name":"间歇性枫糖尿病","synonyms":["中间型支链α酮酸脱氢酶缺乏症"],"definition":"间歇性枫糖浆尿病(间歇性MSUD)是一种轻度的枫糖浆尿病(见该词条)，患者(病情良好时)没有症状，支链氨基酸(BCAA)水平正常，但有分解代谢压力的时候，存在急性失代偿和酮症酸中毒的风险，如果不治疗，可能会导致脑水肿和昏迷。"},"tr":{"name":"Aralıklı akçaağaç şurubu idrar hastalığı","synonyms":["Aralıklı MSUD","Aralıklı BCKD eksikliği","Aralıklı 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":"953441965"},{"source":"MONDO","code":"0017053","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268569","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":["Childhood","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":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}