{"orpha":134,"name":"Beta-ketothiolase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["3-ketothiolase deficiency","3-oxothiolase deficiency","Alpha methylacetoacetic aciduria","Alpha-methyl-acetoacetyl-CoA thiolase deficiency","Mitochondrial acetoacetyl-coenzyme A thiolase deficiency","T2 deficiency"],"definition":"A rare, genetic organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy and usually ceasing by adolescence.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-134/","orphanet_url":"https://www.orpha.net/en/disease/detail/134","names":{"fr":{"name":"Déficit en bêta-cétothiolase","synonyms":["Carence en bêta-cétothiolase","Déficit en 3-cétothiolase","Déficit en T2","Déficit en alpha-méthyl-acétoacétyl-CoA thiolase"],"definition":"Acidurie organique rare d'origine génétique affectant le métabolisme des corps cétoniques et le catabolisme de l'isoleucine, caractérisée par des épisodes acidocétosiques accompagnés de vomissements, de dyspnée, de tachypnée, d'hypotonie, de léthargie et de coma, apparaissant pendant la petite enfance et cessant habituellement à l'adolescence."},"de":{"name":"Beta-Ketothiolase-Mangel","synonyms":["3-Ketothiolase-Mangel","3-Oxo-Thiolase-Mangel","Alpha-Methyl-Acetessigsäure-Azidurie","Alpha-Methyl-Acetoacetyl-CoA Thiolase-Mangel","Mitochondrialer Acetoacetyl-Coenzym A-Thiolase-Mangel","T2-Mangel"],"definition":"Eine genetisch bedingte organische Azidurie, die den Ketonkörper-Stoffwechsel und den Isoleucin-Katabolismus beeinträchtigt und durch intermittierende ketoazidotische Episoden gekennzeichnet ist, die mit Erbrechen, Dyspnoe, Tachypnoe, Hypotonie, Lethargie und Koma einhergehen und im Säuglingsalter beginnen und in der Regel im Jugendalter aufhören."},"es":{"name":"Deficiencia de beta-cetotiolasa","synonyms":["Aciduria alfa metil-acetoacética","Deficiencia T2","Deficiencia de 3-cetotiolasa","Deficiencia de 3-oxatiolano","Deficiencia de acetoacetil-coenzima A tiolasa mitocondrial","Deficiencia de alfa-metil-acetoacetil-CoA tiolasa"],"definition":"Es una aciduria orgánica de origen genético, poco frecuente que afecta al metabolismo de los cuerpos cetónicos y al catabolismo de la isoleucina. Está caracterizada por episodios cetoacidóticos intermitentes asociados a vómitos, disnea, taquipnea, hipotonía, letargia y coma, de inicio en la lactancia y que, por lo general, remiten en la adolescencia."},"it":{"name":"Deficit di beta-chetotiolasi","synonyms":["Aciduria alfa-metilacetoacetica","Deficit di 3-chetotiolasi","Deficit di 3-ossotiolasi","Deficit di T2","Deficit di alfa-metil-acetoacetil-CoA tiolasi","Deficit mitocondriale di acetoacetil-Coenzima A tiolasi"],"definition":"Si tratta di un'aciduria organica genetica rara, che interessa il metabolismo dei corpi chetonici e il catabolismo dell'isoleucina. È caratterizzata da episodi chetoacidosici intermittenti associati a vomito, dispnea, tachipnea, ipotonia, letargia e coma. La malattia esordisce nella prima infanzia e in genere si risolve prima dell'adolescenza."},"nl":{"name":"Bèta-ketothiolasedeficiëntie","synonyms":["Alfa-methyl-acetoacetyl-CoA-thiolasedeficiëntie","Alfa-methylacetoacetaatacidurie","Mitochondriaal acetoacetyl-co-enzym A-thiolasedeficiëntie","T2-deficiëntie","3-ketothiolasedeficiëntie","3-oxothiolasedeficiëntie"],"definition":"Een zeldzame, genetische organische acidurie die metabolisme van ketolichamen en katabolisme van isoleucine beïnvloedt, en die gekarakteriseerd wordt door intermitterende ketoacidotische episodes geassocieerd met braken, dyspneu, tachypneu, hypotonie, lethargie en coma, aanvangend in de zuigelingentijd en doorgaans eindigend tegen de adolescentie."},"pt":{"name":"Deficiência de beta-cetotiolase","synonyms":["Deficiência de MAT","Deficiência de alfa-2-metil-acetoacetil-CoA tiolase"],"definition":"Acidúria orgânica genética rara que afeta o metabolismo dos corpos cetónicos e o catabolismo da isoleucina, caracterizada por episódios intermitentes de cetoacidose associados a vómitos, dispneia, taquipneia, hipotonia, letargia e coma, com início na infância e geralmente termina na adolescência."},"pl":{"name":"Niedobór beta ketotiolazy","synonyms":["Kwasica alfa metyloacetooctowa","Niedobór 3-ketotiolazy","Niedobór 3-oksotiolazy","Niedobór mitochondrialnej tiolazy acetoacetylo-koenzymu A","Niedobór T2","Niedobór tiolazy alfa-metylo-acetoacetylo-CoA"]},"cs":{"name":"Deficit beta-ketothiolázy","synonyms":["Deficit 3-ketothiolázy","Deficit 3-oxothiolázy","Alfa-methyl acetoacetátová acidurie","Deficit alfa-methylacetoacetyl-CoA-thiolázy","Deficit mitochondriální acetoacetyl-CoA-thiolázy","Deficit T2"]},"uk":{"name":"Дефіцит бета-кетотіолази","synonyms":["Дефіцит 3-кетотіолази","Дефіцит 3-окситіолази","Альфа-метилацетоуксусная ацидурія","Дефіцит альфа-метил-ацетоацетил-КоА тіолази","Дефіцит мітохондріальної ацетоацетил-коензиму А тіолази","Дефіцит Т2"],"definition":"A rare, genetic organic aciduria affecting ketone body metabolism and the catabolism of isoleucine and characterized by intermittent ketoacidotic episodes associated with vomiting, dyspnea, tachypnoea, hypotonia, lethargy and coma, with an onset during infancy and usually ceasing by adolescence."},"zh":{"name":"β-酮硫解酶缺乏","synonyms":["线粒体乙酰乙酰基-辅酶A硫解酶缺乏"]},"tr":{"name":"Beta-ketotiolaz eksikliği","synonyms":["T2 eksikliği","3-oksotiyolaz eksikliği","3-ketotiyolaz eksikliği","Alfa metilasetoasetik asidüri","Alfa-metil-asetoasetil-KoA tiyolaz eksikliği","Mitokondriyal asetoasetil-koenzim A tiyolaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"203750","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.DY","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2139994596"},{"source":"MONDO","code":"0008760","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535434","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1536500","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"872","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10067728","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79163,"name":"Classic organic aciduria","classifications":[150,156]},{"orpha":79183,"name":"Disorder of ketolysis","classifications":[150,156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ACAT1","name":"acetyl-CoA acetyltransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23430882[PMID]","hgnc":"93","ensembl":"ENSG00000075239","omim":"607809","loci":["11q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.72,"area":"Australia","status":"Validated","source":"10626578[PMID]_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.43,"area":"United States","status":"Validated","source":"21669895[PMID]_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.98,"area":"China","status":"Validated","source":"31156707[PMID]_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.53,"area":"Viet Nam","status":"Validated","source":"28220263[PMID]_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-05-13","source":"28689740[PMID]_28220263[PMID]_9700610[PMID]_4812006[PMID]_4143539[PMID]","terms":[{"hpo":"HP:0011446","label":"Abnormality of higher mental function","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001941","label":"Acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002149","label":"Hyperuricemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002919","label":"Ketonuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001942","label":"Metabolic acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002789","label":"Tachypnea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000741","label":"Apathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001262","label":"Excessive daytime somnolence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001987","label":"Hyperammonemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001974","label":"Increased total leukocyte count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001993","label":"Ketoacidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004372","label":"Reduced consciousness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001894","label":"Thrombocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012705","label":"Abnormal metabolic brain imaging by MRS","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000713","label":"Agitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0500001","label":"Body odor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007308","label":"Extrapyramidal dyskinesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003074","label":"Hyperglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002151","label":"Increased circulating lactate concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012523","label":"Oral aversion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very rare (<4-1%)","criteria":null}]}}