{"orpha":247546,"name":"Acute neonatal citrullinemia type I","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Acute neonatal citrullinemia type 1","Early-onset citrullinemia type 1","Early-onset citrullinemia type I"],"definition":"A severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-247546/","orphanet_url":"https://www.orpha.net/en/disease/detail/247546","names":{"fr":{"name":"Citrullinémie type I néonatale aiguë","synonyms":["Citrullinémie type 1 néonatale aiguë","Citrullinémie type 1 précoce","Citrullinémie type I précoce"],"definition":"La citrullinémie type I néonatal aigu est une forme sévère de citrullinémie type I caractérisée sur le plan biologique par une hyperammoniémie et sur le plan clinique par une léthargie progressive, un refus alimentaire, des vomissements, des convulsions et une perte possible de conscience survenant un à quelques jours après la naissance, accompagnés par une hypertension intracrânienne de degré variable. Cette maladie peut conduire à des troubles neurologiques significatifs."},"de":{"name":"Zitrullinämie Typ I, akute neonatale","synonyms":["Akute neonatale Zitrullinämie Typ 1","Citrullinämie Typ 1, früh-beginnende","Citrullinämie, akute neonatale, Typ I"],"definition":"Die akute neonatale Zitrullinämie Typ 1 ist eine schwere Form der Zitrullinämie Typ 1 (s. dort) und klinisch gekennzeichnet durch Hyperammonämie, progrediente Lethargie, schlechte Nahrungsaufnahme und Erbrechen, Krämpfe und eventuell Bewusstseinsverlust. Die Symptome treten ein bis wenige Tage nach der Geburt auf, zusammen mit unterschiedlichen Zeichen erhöhten intrakraniellen Druckes. Die Krankheit kann zu schweren neurologischen Defiziten führen."},"es":{"name":"Citrulinemia neonatal aguda tipo 1","synonyms":["Citrulinemia neonatal aguda tipo I"],"definition":"Es una forma grave de la citrulinemia tipo 1 que se caracteriza biológicamente por hiperamonemia y clínicamente por letargo progresivo, alimentación deficiente y vómitos, convulsiones y posible pérdida del conocimiento, en los primeros días de vida, con signos variables de incremento de la presión intracraneal. Esta enfermedad puede dar lugar a déficits neurológicos significativos."},"it":{"name":"Citrullinemia neonatale acuta tipo I","synonyms":["Citrullinemia classica, tipo 1","Citrullinemia classica, tipo I","Citrullinemia neonatale acuta tipo 1","Citrullinemia neonatale acuta, tipo 1"],"definition":"La citrullinemia tipo 1 neonatale acuta è una forma grave della citrullinemia tipo 1 (si veda questo termine), caratterizzata da iperammoniemia, letargia progressiva, malnutrizione, vomito, convulsioni e possibile perdita di coscienza, nel primo giorno o entro pochi giorni dalla nascita, con segni variabili di un aumento della pressione intracranica. La malattia può comportare significativi deficit neurologici."},"nl":{"name":"Acute neonatale citrullinemie type I","synonyms":["Acute neonatale citrullinemie type 1","Vroeg optredende citrullinemie type 1","Vroeg optredende citrullinemie type I"],"definition":"Een ernstige vorm van citrullinemie type I, biologisch gekarakteriseerd door hyperammoniëmie, en klinisch gekenmerkt door progressieve lethargie, voedingsproblemen en braken, insulten en mogelijk bewustzijnsverlies, binnen een of enkele dagen na de geboorte, met variabele tekenen van verhoogde intracraniële druk. De conditie kan leiden tot significante neurologische stoornissen."},"pt":{"name":"Citrulinémia neonatal aguda tipo I","synonyms":["Citrulinémia neonatal aguda tipo 1","Citrulinémia tipo 1 de início precoce","Citrulinémia tipo I de início precoce"]},"pl":{"name":"Ostra citrulinemia noworodkowa typu i","synonyms":["Citrulinemia klasyczna typu 1","Citrulinemia klasyczna typu I","Ostra citrulinemia noworodkowa typu 1","Ostra noworodkowa cytrulinemia typu I"]},"cs":{"name":"Akutní neonatální citrulinémie, typ I","synonyms":["Akutní neonatální citrulinémie, typ 1","Klasická citrulinémie, typ 1","Klasická citrulinémie, typ I"]},"uk":{"name":"Гостра неонатальна цитрулінемія, тип I","synonyms":["Гостра неонатальна цитрулінемія типу 1","Ранній початок цитрулінемії типу 1","Ранній початок цитрулінемії, тип I"],"definition":"A severe form of citrullinemia type 1 characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting, seizures and possible loss of consciousness, within one to a few days of birth, with variable signs of increased intracranial pressure. The condition can lead to significant neurologic deficits."},"zh":{"name":"急性新生儿瓜氨酸血症I型","synonyms":["急性新生儿瓜氨酸血症1型"],"definition":"瓜氨酸血症1型的一种严重类型，生物学上以高氨血症为特征，临床表现为在出生后一到几天内出现的进行性嗜睡、喂养困难和呕吐不良、癫痫发作和意识丧失可能，伴有颅内压升高的多种迹象。该情况会导致严重的神经功能损害。"},"tr":{"name":"Akut Yenidoğan sitrülinemi tip I","synonyms":["Klasik sitrülinemi tip 1","Klasik sitrülinemi tip I","Akut yenidoğan sitrülinemi tip 1"]}},"xrefs":[{"source":"OMIM","code":"215700","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.A3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1802140935"},{"source":"MONDO","code":"0016600","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679618","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":247525,"name":"Citrullinemia type I","classifications":[150,156]}],"children":[],"genes":[{"symbol":"ASS1","name":"argininosuccinate synthase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301631[PMID]","hgnc":"758","ensembl":"ENSG00000130707","omim":"603470","loci":["9q34.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":null}