{"orpha":353320,"name":"Pyruvate carboxylase deficiency, benign type","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Pyruvate carboxylase deficiency type C"],"definition":"Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-353320/","orphanet_url":"https://www.orpha.net/en/disease/detail/353320","names":{"fr":{"name":"Déficit en pyruvate carboxylase, type bénin","synonyms":["Déficit en pyruvate carboxylase type C"],"definition":"Le déficit en pyruvate carboxylase (PC), type bénin (type C) est une forme rare et très légère de déficit en PC caractérisée par des épisodes d'acidose métabolique et un développement neurologique normal ou légèrement retardé."},"de":{"name":"Pyruvatcarboxylase-Mangel, benigner Typ","definition":"Der benigne Pyruvatcarboxylase (PC)-Mangel (Typ C) ist eine seltene, sehr milde Form des PC-Mangels (siehe dort) und gekennzeichnet durch episodische metabolische Azidosen und normale oder nur leicht verzögerte neurologische Entwicklung."},"es":{"name":"Deficiencia de piruvato carboxilasa tipo benigno","synonyms":["Deficiencia de piruvato carboxilasa tipo C"],"definition":"El déficit de piruvato-carboxilasa (PC) benigno (tipo C) es una forma rara y muy leve de déficit de PC (ver este término) caracterizada por acidosis metabólica episódica y desarrollo neurológico normal o ligeramente retrasado."},"it":{"name":"Deficit di piruvato carbossilasi, tipo benigno","synonyms":["Deficit di piruvato carbossilasi, tipo C"],"definition":"Il deficit benigno di piruvato carbossilasi (PC) (tipo C) è una forma rara, molto lieve del deficit di PC (si veda questo termine), caratterizzata da acidosi metabolica e sviluppo neurologico normale o lievemente ritardato."},"nl":{"name":"Pyruvaatcarboxylasedeficiëntie, goedaardig type","synonyms":["Pyruvaatcarboxylasedeficiëntie type C"],"definition":"Goedaardige pyruvaatcarboxylase (PC) -deficiëntie (type C) is een zeldzame, zeer milde vorm van PC-deficiëntie (zie deze term) en wordt gekenmerkt door episodische metabole acidose en een normale of licht vertraagde neurologische ontwikkeling."},"pt":{"name":"Défice de piruvato carboxilase, tipo benigno"},"pl":{"name":"Niedobór karboksylazy pirogronianowej, typ łagodny","synonyms":["Niedobór karboksylazy pirogronianowej typu C"],"definition":"Łagodny niedobór karboksylazy pirogronianowej (typ C) to rzadka, bardzo łagodna postać niedoboru karboksylazy pirogronianowej charakteryzująca się występowaniem epizodów kwasicy metabolicznej i prawidłowym lub lekko opóźnionym rozwojem neurologicznym."},"cs":{"name":"Deficit pyruvátkarboxylasy, benigní typ","synonyms":["Deficit pyruvátkarboxylasy, typ C"]},"uk":{"name":"Дефіцит піруваткарбоксилази, доброякісний тип","synonyms":["Дефіцит піруваткарбоксилази типу С"],"definition":"Benign pyruvate carboxylase (PC) deficiency (Type C) is a rare, very mild form of PC deficiency characterized by episodic metabolic acidosis and normal or mildly delayed neurological development."},"zh":{"name":"丙酮酸羧化酶缺陷，良性","synonyms":["丙酮酸羧化酶缺乏症C型"],"definition":"良性丙酮酸羧化酶缺乏症(C型)是一种罕见的、非常轻微的PC缺乏症，其特征是间歇性代谢性酸中毒和神经发育正常或轻度延迟。"},"tr":{"name":"Piruvat karboksilaz eksikliği, selim tip","synonyms":["Piruvat karboksilaz eksikliği tip C"]}},"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":"0018143","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679927","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"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"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"20301764[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20301764[PMID]"}],"phenotypes":null}