{"orpha":353314,"name":"Pyruvate carboxylase deficiency, severe neonatal type","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Pyruvate carboxylase deficiency type B"],"definition":"Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-353314/","orphanet_url":"https://www.orpha.net/en/disease/detail/353314","names":{"fr":{"name":"Déficit en pyruvate carboxylase, type néonatal sévère","synonyms":["Déficit en pyruvate carboxylase type B"],"definition":"Le déficit en pyruvate carboxylase (PC), type néonatal sévère (type B) est une forme rare et extrêmement sévère de déficit en PC caractérisée par une acidose métabolique sévère d'apparition précoce, et une issue généralement fatale pendant la petite enfance."},"de":{"name":"Pyruvat-Carboxylase-Mangel, schwerer neonataler Typ","synonyms":["Pyruvat-Carboxylase-Mangel Typ B"],"definition":"Der Schwere neonatale Pyruvatcarboxylase (PC)-Mangel (Type B) ist eine seltene, extrem schwere Form des PC-Mangels (siehe dort) und gekennzeichnet durch schwere, früh beginnende metabolische Azidose und einen in der Regel schon im frühen Kleinkindalter letalen Ausgang."},"es":{"name":"Deficiencia de piruvato carboxilasa tipo neonatal grave","synonyms":["Deficiencia de piruvato carboxilasa tipo B"],"definition":"El déficit de piruvato-carboxilasa neonatal grave (tipo B) es una forma rara y extremadamente severa de déficit de PC (ver este término) caracterizada por una acidosis metabólica grave de aparición temprana y un desenlace generalmente mortal en la primera infancia."},"it":{"name":"Deficit di piruvato carbossilasi, tipo neonatale grave","synonyms":["Deficit di piruvato carbossilasi, tipo B"],"definition":"Il deficit neonatale grave di piruvato carbossilasi (PC) (tipo B) è una forma rara, estremamente grave, del deficit di PC (si veda questo termine), caratterizzata da grave acidosi metabolica ad esordio precoce ed esito di solito letale nella prima infanzia."},"nl":{"name":"Pyruvaatcarboxylasedeficiëntie, ernstig neonataal type","synonyms":["Pyruvaatcarboxylasedeficiëntie type B"],"definition":"Ernstige, neonatale pyruvaatcarboxylase (PC)-deficiëntie (type B) is een zeldzame, zeer ernstige vorm van PC-deficiëntie (zie deze term) gekenmerkt door een vroeg aanvangende, ernstige, metabole acidose en meestal een fatale afloop in de vroege zuigelingentijd."},"pt":{"name":"Défice de piruvato carboxilase, tipo neonatal grave"},"pl":{"name":"Niedobór karboksylazy pirogronianowej, ciężki typ noworodkowy","synonyms":["Niedobór karboksylazy pirogronianowej typu B"],"definition":"Ciężki noworodkowy niedobór karboksylazy pirogronianowej (typ B) to rzadka, ekstremalnie ciężka postać niedoboru karboksylazy pirogronianowej charakteryzująca się ciężką kwasicą metaboliczną o wczesnym początku i najczęściej kończąca się śmiercią we wczesnym dzieciństwie."},"cs":{"name":"Deficit pyruvátkarboxylasy, těžký novorozenecký typ","synonyms":["Deficit pyruvátkarboxylasy, typ B"]},"uk":{"name":"Дефіцит піруваткарбоксилази, тяжкий неонатальний тип","synonyms":["Дефіцит піруваткарбоксилази типу В"],"definition":"Severe neonatal pyruvate carboxylase (PC) deficiency (Type B) is a rare, extremely severe form of PC deficiency characterized by severe, early-onset metabolic acidosis, and a generally fatal outcome in early infancy."},"zh":{"name":"丙酮酸羧化酶缺陷，严重新生儿型","synonyms":["丙酮酸羧化酶缺乏症B型"],"definition":"新生儿严重的丙酮酸羧化酶缺乏症(B型)是一种罕见的、极其严重的PC缺乏症，其特征是严重的、早发性的代谢性酸中毒，在婴幼儿早期通常是致命的。"},"tr":{"name":"Piruvat karboksilaz eksikliği, ağır yenidoğan tip","synonyms":["Piruvat karboksilaz eksikliği tip B"]}},"xrefs":[{"source":"OMIM","code":"266150","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C53.03","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0018142","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679929","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":3008,"name":"Pyruvate carboxylase deficiency","classifications":[150,156,181]}],"children":[],"genes":[{"symbol":"PC","name":"pyruvate carboxylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301764[PMID]","hgnc":"8636","ensembl":"ENSG00000173599","omim":"608786","loci":["11q13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":null}