{"orpha":35,"name":"Propionic acidemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Ketotic hyperglycinemia","Propionic aciduria","Propionyl-CoA carboxylase deficiency"],"definition":"Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-35/","orphanet_url":"https://www.orpha.net/en/disease/detail/35","names":{"fr":{"name":"Acidémie propionique","synonyms":["Acidurie propionique","Déficit en propionyl-CoA carboxylase","Glycinémie cétosique"],"definition":"L'acidémie propionique (AP) est une acidurie organique due au déficit en activité de la propionyl coenzyme A carboxylase. Elle est caractérisée par une dysfonction neurologique et des épisodes de décompensation métabolique mettant le pronostic vital en jeu, et peut être alourdie par une cardiomyopathie."},"de":{"name":"Propionazidämie","synonyms":["Glycinämie, ketotische","Propionazidurie","Propionyl-CoA-Carboxylase-Mangel"],"definition":"Die Propionazidämie (PA) ist eine Organische Azidurie mit fehlender Aktivität der Propionyl- Coenzym A(CoA)-Carboxylase. Kennzeichnend sind lebensbedrohliche Krisen durch Stoffwechselentgleisung, neurologische Ausfälle und Kardiomyopathie."},"es":{"name":"Acidemia propiónica","synonyms":["Aciduria propiónica","Deficiencia de propionil-CoA carboxilasa","Hiperglicinemia cetósica"],"definition":"La acidemia propiónica (AP) es una aciduria orgánica causada por deficiencias en la actividad de la propionil CoA-carboxilasa, y se caracteriza por episodios potencialmente mortales de descompensación metabólica y disfunción neurológica que se pueden complicar por miocardiopatía."},"it":{"name":"Acidemia propionica","synonyms":["Aciduria propionica","Deficit di propionil-CoA carbossilasi","Iperglicinemia chetosica"],"definition":"L'acidemia propionica (PA) è un'acidemia organica causata da un deficit di attività della propionil Coenzima A carbossilasi, caratterizzata da episodi potenzialmente letali di scompenso metabolico e disfunzione neurologica. Può essere complicata dalla cardiomiopatia."},"nl":{"name":"Propionacidemie","synonyms":["Deficiëntie van propionyl-CoA-carboxylase","Ketotische hyperglycinemie","Propionacidurie","Propionzuuracidemie","Propionzuuracidurie"],"definition":"Propionzuuracidemie (PA) is een organische acidurie die veroorzaakt wordt door een gebrekkige activiteit van propionyl-Coenzym A-carboxylase en wordt gekenmerkt door levensbedreigende episodes van metabole decompensatie, neurologische disfunctie en kan gecompliceerd worden door cardiomyopathie."},"pt":{"name":"Acidemia propiónica","synonyms":["Deficiência de propionil-CoA carboxilase","Glicinemia cetótica"],"definition":"A acidemia propiónica (AP) é uma acidúria orgânica causada pela atividade deficiente da propionil-CoA carboxilase e é caracterizada por episódios de descompensação metabólica com risco de vida, disfunção neurológica e que pode ser complicada por cardiomiopatia."},"pl":{"name":"Kwasica propionowa","synonyms":["Acyduria propionowa","Hiperglicynemia ketonowa","Niedobór karboksylazy propionylo-CoA"]},"cs":{"name":"Propionová acidémie","synonyms":["Ketotická hyperglycinémie","Propionová acidurie","Deficit propionyl-CoA karboxylázy"]},"uk":{"name":"Пропіонова ацидемія","synonyms":["Кетозна гіперглікемія","Пропіонова ацидурія","Дефіцит пропіоніл-КоА-карбоксилази"],"definition":"Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy."},"zh":{"name":"丙酸血症","synonyms":["丙酰辅酶A羧化酶缺乏"]},"tr":{"name":"Propiyonik asidemi","synonyms":["Propiyonik asidüri","Ketotik hiperglisinemi","Propionyl-CoA karboksilaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"606054","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E71.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C50.E0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1618541953"},{"source":"MONDO","code":"0011628","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D056693","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268579","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"467","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":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PCCA","name":"propionyl-CoA carboxylase subunit alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22593918[PMID]","hgnc":"8653","ensembl":"ENSG00000175198","omim":"232000","loci":["13q32.3"]},{"symbol":"PCCB","name":"propionyl-CoA carboxylase subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22593918[PMID]","hgnc":"8654","ensembl":"ENSG00000114054","omim":"232050","loci":["3q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":">1 / 1000","value":100.0,"area":"Canada","status":"Validated","source":"10820128[PMID]_23509210[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"Worldwide","status":"Validated","source":"22593918[PMID]_14586648[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Europe","status":"Validated","source":"23509210[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.6,"area":"Italy","status":"Validated","source":"11953730[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.0,"area":"Germany","status":"Validated","source":"23509210[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":33.0,"area":"Saudi Arabia","status":"Validated","source":"23509210[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.7,"area":"Japan","status":"Validated","source":"12189489[PMID]_23509210[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.23,"area":"Korea, Republic of","status":"Validated","source":"24101962[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.0278,"area":"China","status":"Validated","source":"34103049[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002019","label":"Constipation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001987","label":"Hyperammonemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001992","label":"Organic aciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003353","label":"Propionyl-CoA carboxylase deficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010978","label":"Abnormality of immune system physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null}]}}