{"orpha":79157,"name":"2-methylbutyryl-CoA dehydrogenase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["2-methylbutyric aciduria","Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency","SBCAD deficiency","Short/branched-chain acyl-coA dehydrogenase deficiency"],"definition":"A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79157/","orphanet_url":"https://www.orpha.net/en/disease/detail/79157","names":{"fr":{"name":"Déficit en 2-méthylbutyryl-CoA déshydrogénase","synonyms":["Acidurie 2-méthylbutyrique","Déficit en acyl-CoA déshydrogénase des acides gras à chaîne courte ou ramifiée","Retard de développement par déficit en 2-méthylbutyryl-CoA déshydrogénase"],"definition":"Acidurie organique rare caractérisée par une altération de la dégradation de l'isoleucine, une augmentation des taux d'acylcarnitine C5 dans le plasma ou le volume total du sang (généralement observée lors du dépistage chez le nouveau-né) et une excrétion urinaire accrue de 2-méthylbutyrylglycine. Sur le plan clinique, la maladie est généralement asymptomatique, bien que des cas d'hypotonie musculaire, de retard de développement et de crises convulsives (entre autres) aient été rapportés."},"de":{"name":"2-Methylbutyryl-CoA-Dehydrogenase-Mangel","synonyms":["SBCAD-Mangel","2-Methylbutyrazidurie","Acyl-CoA-Dehydrogenase-Mangel, kurz/verzweigtkettige","Entwicklungsverzögerung durch 2-Methylbutyryl-CoA-Dehydrogenase-Mangel"],"definition":"Eine seltene organische Azidurie, die durch einen gestörten Isoleucin-Abbau mit erhöhten C5-Acylcarnitin-Spiegeln im Plasma oder Vollblut (typischerweise beim Neugeborenen-Screening beobachtet) und einer erhöhten Ausscheidung von N-Methylbutyrylglycin im Urin gekennzeichnet ist. Der Zustand ist in der Regel klinisch asymptomatisch, obwohl von Patienten mit Muskelhypotonie, Entwicklungsverzögerung und Krampfanfällen (neben anderen) berichtet wurde."},"es":{"name":"Deficiencia de 2-metilbutiril-CoA deshidrogenasa","synonyms":["Aciduria 2-metilbutírica","Deficiencia de SBCAD","Deficiencia de acil-CoA deshidrogenasa de cadena corta/ramificada","Retraso del desarrollo por deficiencia de 2-metilbutiril-CoA-deshidrogenasa"],"definition":"Es una aciduria orgánica poco frecuente caracterizada por una alteración de la degradación de la isoleucina con niveles elevados de acilcarnitina C5 en plasma o en sangre total (que se observa típicamente en el cribado neonatal) y aumento de la excreción urinaria de N-metilbutirilglicina. Por lo general, el trastorno es clínicamente asintomático, aunque se han descrito pacientes con hipotonía muscular, retraso psicomotor y crisis epilépticas (entre otros)."},"it":{"name":"Deficit di 2-metilbutirril-CoA deidrogenasi","synonyms":["Aciduria 2-metilbutirrica","Deficit di SBCAD","Deficit di acil-CoA deidrogenasi a catena corta/ramificata","Ritardo dello sviluppo da deficit di 2-metilbutirril-CoA deidrogenasi"],"definition":"Si tratta di un'aciduria organica rara, caratterizzata da anomalie della degradazione dell'isoleucina, con livelli elevati di acilcarnitina C5 nel plasma o nel sangue (di solito riscontrati attraverso lo screening neonatale) e aumento di N-metilbutirrilglicina nelle urine. Di solito i pazienti sono asintomatici, ma sono stati descritti casi di ipotonia muscolare, ritardo dello sviluppo e crisi epilettiche."},"nl":{"name":"2-methylbutyryl-CoA-dehydrogenasedeficiëntie","synonyms":["2-methylboterzuuracidurie","Korte/vertakte keten acyl-CoA-dehydrogenasedeficiëntie","Ontwikkelingsachterstand als gevolg van 2-methylbutyryl-CoA-dehydrogenasedeficiëntie","SBCAD-deficiëntie"],"definition":"Een zeldzame organische acidurie, gekarakteriseerd door verstoorde degradatie van isoleucine met verhoogde gehaltes van C5-acylcarnitine in plasma of volbloed (doorgaans waargenomen bij screening van neonaten) en verhoogde excretie van N-methylbutyrylglycine in urine. De aandoening is meestal klinisch asymptomatisch, hoewel ook patiënten met onder meer spierhypotonie, ontwikkelingsachterstand, en insulten werden gerapporteerd."},"pt":{"name":"Deficiência de 2-metilbutiril-coA desidrogenase","synonyms":["Acidúria 2-metilbutírica","Deficiência de acil-coA desidrogenase de cadeias curtas/ramificadas","Perturbação do desenvolvimento por deficiência de 2-metilbutiril-coA desidrogenase"]},"pl":{"name":"Niedobór dehydrogenazy 2-metylobutyrylo-CoA","synonyms":["Acyduria 2-metylobutyrylowa","Niedobór dehydrogenazy krótkich/rozgałęzionych łańcuchów acylo-CoA","Niedobór SBCAD","Opóźnienie rozwoju z powodu niedoboru dehydrogenazy 2-metylobutyrylo-CoA"]},"cs":{"name":"Deficit 2-methylbutyryl-CoA dehydrogenázy","synonyms":["2-methylmáselná acidurie","Deficit SBCAD","Opožděný vývoj způsobený deficitem 2-methylbutyryl-CoA dehydrogenázy","Deficit dehydrogenázy acyl-CoA s krátkými/větvenými řetězci"]},"uk":{"name":"Дефіцит 2-метилбутирил-КоА-дегідрогенази","synonyms":["2-метилмасляна ацидурія","Затримка розвитку через дефіцит 2-метилбутирил-КоА-дегідрогенази","Дефіцит SBCAD","Дефіцит ацил-коА-дегідрогенази з коротким/розгалуженим ланцюгом"],"definition":"A rare organic aciduria characterized by impaired isoleucine degradation with increased plasma or whole blood C5 acylcarnitine levels (typically observed in newborn screening) and increased urinary excretion of N-methylbutyrylglycine. The condition is usually clinically asymptomatic, although patients with muscular hypotonia, developmental delay, and seizures (among others) have been reported."},"zh":{"name":"2-甲基丁酰辅酶A脱氢酶缺陷症","synonyms":["2-甲基丁酰基辅酶A脱氢酶缺乏所致发育迟缓"]},"tr":{"name":"2-metilbütiril-KoA dehidrojenaz eksikliği","synonyms":["SBCAD eksikliği","2-metilbütirik asidüri","Kısa/dallı zincirli açil-coA dehidrojenaz eksikliği","2-metilbütiril-CoA dehidrojenaz eksikliğine bağlı gelişme geriliği"]}},"xrefs":[{"source":"OMIM","code":"610006","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.E0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1141171278"},{"source":"MONDO","code":"0012392","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566487","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1864912","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10322","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":79163,"name":"Classic organic aciduria","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ACADSB","name":"acyl-CoA dehydrogenase short/branched chain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20547083[PMID]","hgnc":"91","ensembl":"ENSG00000196177","omim":"600301","loci":["10q26.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-08-26","source":"30730842[PMID]_40835664[PMID]_31555323[PMID]_36147814[PMID]","terms":[{"hpo":"HP:0033220","label":"2-ethylhydracylic aciduria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0035019","label":"Elevated circulating C5 acylcarnitine concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very rare (<4-1%)","criteria":null}]}}