{"orpha":401948,"name":"Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CA-VA deficiency"],"definition":"A rare, hereditary inborn error of metabolism characterized by an acute onset of encephalopathy in infancy or early childhood. Apart from these episodic acute events, the disorder shows a relatively benign course. Multiple metabolic abnormalities are present, including metabolic acidosis, respiratory alkalosis, hypoglycemia, increased serum lactate and alanine.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-401948/","orphanet_url":"https://www.orpha.net/en/disease/detail/401948","names":{"fr":{"name":"Encéphalopathie hyperammoniémique par déficit en anhydrase carbonique VA","synonyms":["Déficit en CA-VA"],"definition":"Erreur innée du métabolisme rare et héréditaire, caractérisée par une encéphalopathie à début aigu pendant la petite enfance ou au début de l'enfance. Mis à part ces épisodes aigus, l'évolution de la maladie est relativement bénigne. De multiples troubles du métabolisme sont présents, dont une acidose métabolique, une alcalose respiratoire, une hypoglycémie et un taux sérique élevé de lactate et d'alanine."},"de":{"name":"Hyperammonämische Enzephalopathie durch Carboanhydrase VA-Mangel","synonyms":["CA-VA-Mangel"],"definition":"Eine seltene, angeborene Stoffwechselstörung, die durch einen akuten Ausbruch einer Enzephalopathie im Säuglingsalter oder in der frühen Kindheit gekennzeichnet ist. Abgesehen von diesen episodischen akuten Ereignissen nimmt die Störung einen relativ gutartigen Verlauf. Es liegen mehrere Stoffwechselanomalien vor, einschließlich metabolischer Azidose, respiratorischer Alkalose, Hypoglykämie, erhöhtem Serumlaktat und Alanin."},"es":{"name":"Encefalopatía hiperamonémica por deficiencia de anhidrasa carbónica VA","synonyms":["Deficiencia de AC-VA"],"definition":"Es un error innato del metabolismo, hereditario y poco frecuente, caracterizado por un inicio agudo de encefalopatía en la lactancia o en la infancia temprana. Al margen de estos episodios agudos, el trastorno sigue un curso relativamente benigno. Esta enfermedad presenta múltiples anomalías metabólicas, tales como acidosis metabólica, alcalosis respiratoria, hipoglucemia e incremento de los niveles séricos de lactato y de alanina."},"it":{"name":"Encefalopatia con iperammoniemia da deficit di anidrasi carbonica VA","synonyms":["Deficit di CA-VA"],"definition":"È un difetto congenito ereditario raro del metabolismo, caratterizzato da encefalopatia ad esordio acuto nel periodo neonatale o nella prima infanzia. Al di là degli episodi acuti, la malattia ha un decorso relativamente benigno. I pazienti presentano diverse anomalie metaboliche, che comprendono l'acidosi metabolica, l'alcalosi respiratoria, l'ipoglicemia e l'aumento dei livelli di lattato ed alanina nel siero."},"nl":{"name":"Hyperammoniëmische encefalopathie door deficiëntie van koolzuuranhydrase VA","synonyms":["CA-VA-deficiëntie"],"definition":"Een zeldzame, erfelijke, aangeboren stofwisselingsziekte die gekarakteriseerd wordt door een acute aanvang van encefalopathie in de zuigelingentijd of vroege kindertijd. Buiten deze episodische acute voorvallen kent de stoornis een relatief goedaardig verloop. Er zijn meerdere metabole anomalieën aanwezig, waaronder metabole acidose, respiratoire alkalose, hypoglycemie, en verhoogde gehaltes van lactaat en alanine in het serum."},"pt":{"name":"Encefalopatia hiperamoniémica por défice de anidrase carbónica VA"},"pl":{"name":"Encefalopatia hiperamonowa z powodu niedoboru anhydrazy węglanowej VA","synonyms":["Niedobór CA-VA"]},"cs":{"name":"Hyperamonemická encefalopatie způsobená deficitem VA karbonyl dehydrogenázy","synonyms":["CA-VA deficit"]},"uk":{"name":"Гіперамоніємічна енцефалопатія, зумовлена дефіцитом карбоангідрази ВА","synonyms":["Дефіцит CA-VA"],"definition":"A rare, hereditary inborn error of metabolism characterized by an acute onset of encephalopathy in infancy or early childhood. Apart from these episodic acute events, the disorder shows a relatively benign course. Multiple metabolic abnormalities are present, including metabolic acidosis, respiratory alkalosis, hypoglycemia, increased serum lactate and alanine."},"zh":{"name":"碳酸酐酶VA缺乏症导致的高氨性脑病","synonyms":["CA-VA缺陷"],"definition":"一种罕见的遗传性先天性代谢异常，其特征是婴儿期或幼儿期脑病急性发作。除了这类突发性急性事件外，该疾病病程相对良性。存在多种代谢异常，包括代谢性酸中毒，呼吸性碱中毒，低血糖，血清乳酸和丙氨酸增加。"},"tr":{"name":"Karbonik anhidraz VA eksikliğine bağlı hiperammonemik ensefalopati","synonyms":["CA-VA eksikliği"]}},"xrefs":[{"source":"OMIM","code":"615751","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E74.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.AY","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0014332","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706871","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13201","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79197,"name":"Disorder of branched-chain amino acid metabolism","classifications":[150,156]},{"orpha":79167,"name":"Disorder of urea cycle metabolism and ammonia detoxification","classifications":[150,156]},{"orpha":79177,"name":"Gluconeogenesis disorder","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]}],"children":[],"genes":[{"symbol":"CA5A","name":"carbonic anhydrase 5A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24530203[PMID]","hgnc":"1377","ensembl":"ENSG00000174990","omim":"114761","loci":["16q24.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"25834911[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25834911[PMID]"}],"phenotypes":null}