{"orpha":353308,"name":"Pyruvate carboxylase deficiency, infantile type","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Pyruvate carboxylase deficiency type A"],"definition":"Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-353308/","orphanet_url":"https://www.orpha.net/en/disease/detail/353308","names":{"fr":{"name":"Déficit en pyruvate carboxylase, type infantile","synonyms":["Déficit en pyruvate carboxylase type A"],"definition":"Le déficit en pyruvate carboxylase (PC), type infantile (type A) est une forme rare et sévère de déficit en PC caractérisée par une apparition au cours de la petite enfance, une acidémie lactique légère à modérée, et une évolution généralement sévère."},"de":{"name":"Pyruvat-Carboxylase-Mangel, infantile Form","synonyms":["Pyruvat-Carboxylase-Mangel Typ A"],"definition":"Der Infantile Pyruvatcarboxylase (PC)-Mangel (Type A) ist eine seltene, schwere Form des PC-Mangels (siehe dort) und gekennzeichnet durch im Kleinkindalter beginnen moderate Laktatazidämie, aber generell schweren Verlauf."},"es":{"name":"Deficiencia de piruvato carboxilasa tipo infantil","synonyms":["Deficiencia de piruvato carboxilasa tipo A"],"definition":"El déficit de piruvato-carboxilasa infantil (tipo A) es una forma rara y grave de déficit de PC (ver este término) caracterizada por su aparición en la primera infancia, acidemia láctica de leve a moderada y una evolución generalmente grave."},"it":{"name":"Deficit di piruvato carbossilasi, forma infantile","synonyms":["Deficit di piruvato carbossilasi, tipo A"]},"nl":{"name":"Pyruvaatcarboxylasedeficiëntie, infantiel type","synonyms":["Pyruvaatcarboxylasedeficiëntie type A"],"definition":"Infantiele pyruvaatcarboxylase (PC)-deficiëntie (type A) is een zeldzame, ernstige vorm van PC-deficiëntie (zie deze term) gekenmerkt door een aanvang tijdens de zuigelingentijd, milde tot matige melkzuuracidemie en een over het algemeen ernstig verloop."},"pt":{"name":"Défice de piruvato carboxilase, tipo infantil"},"pl":{"name":"Niedobór karboksylazy pirogronianowej, postać dziecięca","synonyms":["Niedobór karboksylazy pirogronianowej typu A"],"definition":"Dziecięcy niedobór karboksylazy pirogronianowej (typ A), ciężka postać niedoboru karboksylazy pirogronianiowej charakteryzuje się wystąpieniem w wieku dziecięcym łagodnej do umiarkowanej kwasicy metabolicznej i najczęściej ciężkim przebiegiem."},"cs":{"name":"Deficit pyruvátkarboxylasy, kojenecká forma","synonyms":["Deficit pyruvátkarboxylasy, typ A"]},"uk":{"name":"Дефіцит піруваткарбоксилази, дитячий тип","synonyms":["Дефіцит піруваткарбоксилази типу А"],"definition":"Infantile pyruvate carboxylase (PC) deficiency (Type A) is a rare, severe form of PC deficiency characterized by infantile-onset, mild to moderate lactic acidemia, and a generally severe course."},"zh":{"name":"丙酮酸羧化酶缺陷，婴儿型","synonyms":["丙酮酸羧化酶缺乏症A型"],"definition":"婴儿型丙酮酸羧化酶(PC)缺乏症(A型)是一种罕见的严重的PC缺乏症，以婴儿期起病、轻度至中度乳酸酸血症为特征，病程一般较重。"},"tr":{"name":"Piruvat karboksilaz eksikliği, infantil tip","synonyms":["Piruvat karboksilaz eksikliği tip A"]}},"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":"0018141","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679928","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"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}