{"orpha":132,"name":"Hereditary butyrylcholinesterase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hereditary pseudocholinesterase deficiency"],"definition":"Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterised by prolonged apnoea after the use of certain anaesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anaesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-132/","orphanet_url":"https://www.orpha.net/en/disease/detail/132","names":{"fr":{"name":"Déficit héréditaire en butyrylcholinestérase","synonyms":["Déficit héréditaire en pseudocholinestérase"],"definition":"Le déficit en butyryl-cholinestérase (BChE) est un trouble du métabolisme caractérisé par une apnée prolongée après administration de certains anesthésiques, notamment les myorelaxants succinylcholine et le mivacurium et d'autres anesthésiques locaux du type ester. La durée de l'apnée dépend de l'importance du déficit enzymatique."},"de":{"name":"Butyrylcholinesterase-Mangel, hereditärer","synonyms":["Pseudocholinesterase-Mangel, hereditärer"],"definition":"Der Butyrylcholinesterase (BChE)-Mangel ist ein Stoffwechseldefekt, der nach Anwendung einiger bei der Anaesthesie verwendeter Medikamente, z.B. der Muskelrelaxantien Succinylcholin oder Mivacurium und gewisser Lokalanästhetika (z.B. Procain), zu verlängerter Apnoe führt. Die Dauer der Apnoe variiert abhängig vom Ausmaß des Enzymdefektes erheblich."},"es":{"name":"Deficiencia de butiril-colinesterasa hereditaria","synonyms":["Deficiencia de pseudocolinesterasa hereditaria"],"definition":"La deficiencia de butirilcolinesterasa es un trastorno metabólico caracterizado por la aparición de apnea prolongada tras el uso de ciertos fármacos anestésicos, incluyendo los relajantes musculares succinilcolina o el mivacurium y otros anestésicos locales tipo éster. La duración de la apnea prolongada varía significativamente dependiendo del nivel de deficiencia enzimática."},"it":{"name":"Deficit di butirrilcolinesterasi ereditario","synonyms":["Deficit di pseudocolinesterasi"]},"nl":{"name":"Hereditaire deficiëntie van butyrylcholinesterase","synonyms":["Erfelijke deficiëntie van butyrylcholinesterase","Hereditaire deficiëntie van pseudocholinesterase"],"definition":"Deficiëntie van butyrylcholinesterase (BChE) is een metabole aandoening, gekenmerkt door langdurige apneu na het gebruik van bepaalde anesthetica, waaronder de spierverslappers succinylcholine en mivacurium en andere lokale anesthetica van het ester-type. De duur van langdurige apneu varieert aanzienlijk, afhankelijk van de mate van enzymdeficiëntie."},"pt":{"name":"Deficiência de butirilcolinesterase hereditária","synonyms":["Deficiência de pseudocolinesterase hereditária"]},"pl":{"name":"Niedobór butyrylocholinesterazy","synonyms":["Hereditary pseudocholinesterase deficiency"]},"cs":{"name":"Deficit butyrylcholinesterázy","synonyms":["Hereditary pseudocholinesterase deficiency"]},"uk":{"name":"Спадковий дефіцит бутирилхолінестерази","synonyms":["Спадковий дефіцит псевдохолінестерази"],"definition":"Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterised by prolonged apnoea after the use of certain anaesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anaesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency."},"zh":{"name":"丁酰胆碱酯酶缺乏","synonyms":["假性胆碱脂酶缺乏"]},"tr":{"name":"Butirilkolinesteraz eksikliği","synonyms":["Psödokolinesteraz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"617936","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.0","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"5C59.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"581237559"},{"source":"MONDO","code":"0015270","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537417","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5880943","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7482","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10062674","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79219,"name":"Metabolic disease involving other neurotransmitter deficiency","classifications":[150,156,181]}],"children":[],"genes":[{"symbol":"BCHE","name":"butyrylcholinesterase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25054547[PMID]_25448037[PMID]","hgnc":"983","ensembl":"ENSG00000114200","omim":"177400","loci":["3q26.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-06-20","source":"30578021[PMID]_24478828[PMID]_31082076[PMID]_30600548[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001392","label":"Abnormality of the liver","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0031035","label":"Chronic infection","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001658","label":"Myocardial infarction","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003470","label":"Paralysis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004887","label":"Respiratory failure requiring assisted ventilation","frequency":"Very rare (<4-1%)","criteria":null}]}}