{"orpha":832,"name":"Succinyl-CoA:3-oxoacid CoA transferase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["OXCT1 deficiency","SCOT deficiency","Succinyl-CoA acetoacetate transferase deficiency","Succinyl-CoA:3-ketoacid CoA transferase deficiency"],"definition":"A rare, genetic disorder in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-832/","orphanet_url":"https://www.orpha.net/en/disease/detail/832","names":{"fr":{"name":"Déficit en succinyl-CoA:3-oxoacide CoA transférase","synonyms":["Déficit en OXCT1","Déficit en SCOT","Déficit en succinyl-CoA acétoacétate transférase","Déficit en succinyl-CoA:3-cétoacide CoA transférase"],"definition":"Trouble génétique rare de l'utilisation des corps cétoniques, caractérisé par des épisodes intermittents graves, potentiellement mortels, d'acidocétose."},"de":{"name":"Succinyl-CoA:3-Ketosäure-CoA-Transferase-Mangel","synonyms":["OXCT1-Mangel","SCOT-Mangel","Succinyl-CoA Acetoacetat Transferase-Mangel","Succinyl-CoA:3-Oxosäure-CoA-Transferase-Mangel"],"definition":"Eine genetisch bedingte Störung der Ketonkörperverwertung, die durch schwere, potenziell tödliche intermittierende Ketoazidose-Episoden gekennzeichnet ist."},"es":{"name":"Deficiencia de succinil-CoA: 3 oxoácido CoA transferasa","synonyms":["Deficiencia de OXCT1","Deficiencia de SCOT","Deficiencia de succinil-CoA acetoacetato transferasa","Deficiencia de succinil-CoA:3-cetoácido-CoA transferasa"],"definition":"Es un trastorno de origen genético y poco frecuente del metabolismo de los cuerpos cetónicos caracterizado por unos episodios intermitentes graves y potencialmente mortales de cetoacidosis"},"it":{"name":"Deficit di succinil-CoA:3-oxoacido CoA transferasi","synonyms":["Deficit di OXCT1","Deficit di SCOT","Deficit di succinil-CoA acetoacetato transferasi","Deficit di succinil-CoA:3-chetoacido CoA transferasi"],"definition":"Il deficit di succinil-CoA:3-chetoacido CoA transferasi (SCOTD) è una malattia genetica rara legata all'uso dei corpi chetonici, caratterizzata da episodi intermittenti, gravi e potenzialmente letali, di chetoacidosi."},"nl":{"name":"Deficiëntie van succinyl-CoA:3-oxozuur-CoA-transferase","synonyms":["Deficiëntie van succinyl-CoA-acetoacetaattransferase","Deficiëntie van succinyl-CoA:3-ketozuur-CoA-transferase","OXCT1-deficiëntie","SCOT-deficiëntie"],"definition":"Een zeldzame, genetische aandoening van verbruik van ketonlichamen, gekarakteriseerd door ernstige, potentieel fatale, intermitterende episodes van ketoacidose."},"pt":{"name":"Deficiência de succinil-CoA:3 oxoácida CoA transferase","synonyms":["Deficiência OXCT1","Deficiência SCOT","Deficiência de succinil-CoA acetoacetato transferase"],"definition":"Doença genética rara que afeta a utilização de corpos cetónicos, caracterizada por episódios intermitentes graves e potencialmente fatais de cetoacidose."},"pl":{"name":"Niedobór transferazy sukcynylo-CoA:3-ketokwasu CoA","synonyms":["Niedobór OXCT1","Niedobór SCOT","Niedobór transferazy acetoacetatu sukcynylo-CoA","Niedobór transferazy sukcynylo-CoA:3-ketokwasu CoA"],"definition":"Niedobór transferazy sukcynylo-CoA:3-ketokwasu CoA (SCOTD) polega na defekcie utylizacji ciał ketonowych i charakteryzuje się, ciężkimi, potencjalnie śmiertelnymi, napadowymi epizodami kwasicy ketonowej."},"cs":{"name":"Deficit sukcinyl-CoA:3-ketokyselina-CoA transferázy","synonyms":["Deficit OXCT1","Deficit SCOT","Deficit sukcinyl-CoA acetoacetát transferázy","Deficit sukcinyl-CoA:3-oxokyselina-CoA transferázy"]},"uk":{"name":"Дефіцит сукциніл-КоА:3-оксокислої КоА-трансферази","synonyms":["Дефіцит OXCT1","Дефіцит SCOT","Дефіцит сукциніл-КоА ацетоацетаттрансферази","Дефіцит сукциніл-КоА:3-кетокислої КоА-трансферази"],"definition":"A rare, genetic disorder in ketone body utilization characterized by severe, potentially fatal intermittent episodes of ketoacidosis."},"zh":{"name":"琥珀酰辅酶A：3酮酸辅酶A转移酶缺乏症","synonyms":["琥珀酰辅酶A-酮酸辅酶A转移酶缺乏症"]},"tr":{"name":"Süksinil-CoA: 3-ketoasit CoA transferaz eksikliği","synonyms":["SCOT eksikliği","OXCT1 eksikliği","Süksinil-CoA asetoasetat transferaz eksikliği","Süksinil-CoA: 3-oksoasit CoA transferaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"245050","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E71.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C52.02","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1541815077"},{"source":"MONDO","code":"0009492","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537527","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0342792","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4774","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79183,"name":"Disorder of ketolysis","classifications":[150,156]}],"children":[],"genes":[{"symbol":"OXCT1","name":"3-oxoacid CoA-transferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23420214[PMID]_21296660[PMID]","hgnc":"8527","ensembl":"ENSG00000083720","omim":"601424","loci":["5p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":32.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-05-16","source":"34765403[PMID]_33596448[PMID]_21296660[PMID]_9392403[PMID]","terms":[{"hpo":"HP:0001993","label":"Ketoacidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:6000361","label":"Reduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblasts","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0410175","label":"Hyperketonemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002919","label":"Ketonuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002789","label":"Tachypnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004325","label":"Decreased body weight","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Occasional (29-5%)","criteria":null}]}}