{"orpha":247573,"name":"Late-onset citrullinemia type I","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Late-onset citrullinemia type 1"],"definition":"A form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-247573/","orphanet_url":"https://www.orpha.net/en/disease/detail/247573","names":{"fr":{"name":"Citrullinémie type I tardive","synonyms":["Citrullinémie type 1 tardive"],"definition":"La citrullinémie type I de l'adulte est une forme de citrullinémie type I caractérisée par l'apparition à l'âge adulte de manifestations incluant une hyperammoniémie variable et des symptômes neurologiques moins prononcés, pouvant inclure une céphalée intense/des épisodes de type migraineux, une ataxie, une léthargie, un état de somnolence, des scotomes et des troubles de l'élocution. Une hypertension intracrânienne importante peut survenir."},"de":{"name":"Zitrullinämie Typ I, spät-beginnende","synonyms":["Citrullinämie Typ 1, spät-beginnende","Citrullinämie, adulte, Typ I","Zitrullinämie Typ 1, spät-beginnende"],"definition":"Die Adulte Zitrullinämie Typ 1 ist eine Form der Zitrullinämie Typ 1 (s. dort) und klinisch gekennzeichnet durch das Auftreten der Symptome im Erwachsenenalter mit unterschiedlich schwerer Hyperammonämie und weniger auffälligen neurologischen Befunden, darunter intensive Kopfschmerzen, Skotome, migräne-ähnliche Episoden, Ataxie, verwaschene Sprache, Lethargie und Schläfrigkeit. Stark erhöhter intrakraniellen Druck ist möglich."},"es":{"name":"Citrulinemia del adulto tipo I","synonyms":["Citrulinemia del adulto tipo 1","Citrulinemia tipo 1 de inicio tardío","Citrulinemia tipo I de inicio tardío"],"definition":"Es una forma de citrulinemia tipo 1 que se caracteriza clínicamente por la aparición en adultos de síntomas como hiperamonemia variable y hallazgos neurológicos menos llamativos que incluyen dolor de cabeza intenso, escotomas, episodios similares a migrañas, ataxia, dificultad para hablar, letargo y somnolencia. Puede darse un importante incremento de la presión intracraneal."},"it":{"name":"Citrullinemia a esordio tardivo tipo I","synonyms":["Citrullinemia a esordio nell'età adulta, tipo 1","Citrullinemia a esordio tardivo tipo 1","Citrullinemia a esordio tardivo, tipo 1","Citrullinemia a esordio tardivo, tipo I"],"definition":"La citrullinemia tipo 1 a esordio nell'età adulta è una forma di citrullinemia tipo 1 (si veda questo termine), caratterizzata dalla comparsa di sintomi nella vita adulta, con iperammoniemia variabile e segni neurologici meno specifici, come la forte cefalea, gli scotomi, gli episodi simil-emicranici, l'atassia, il linguaggio farfugliato, la letargia e la sonnolenza. Può essere presente un marcato aumento della pressione intracranica."},"nl":{"name":"Laat optredende citrullinemie type I","synonyms":["Laat optredende citrullinemie type 1"],"definition":"Een vorm van citrullinemie type I, klinisch gekarakteriseerd door aanvang in de volwassenheid van symptomen, waaronder variabele hyperammoniëmie en minder opvallende neurologische bevindingen zoals intense hoofdpijn, scotoom, migraine-achtige episodes, ataxie, onduidelijke spraak, lethargie en slaperigheid. Ernstig verhoogde intracraniële druk kan voorkomen."},"pt":{"name":"Late-onset citrullinemia type I","synonyms":["Citrulinémia tipo 1 de início tardio"]},"pl":{"name":"Citrulinemia typu I o poczatku w wieku dorosłym","synonyms":["Citrulinemia typu 1 o poczatku w wieku dorosłym","Citrulinemia typu 1 o późnym początku","Citrulinemia typu I o późnym poczatku"]},"cs":{"name":"Citrulinémie s nástupem v dospělosti, typ I","synonyms":["Citrulinémie s pozdním nástupem, typ 1","Citrulinémie s pozdním nástupem, typ I","Citrulinémie s nástupem v dospělosti, typ 1"]},"uk":{"name":"Пізня цитрулінемія I типу з пізнім початком","synonyms":["Пізня цитрулінемія типу 1"],"definition":"A form of citrullinemia type I characterized clinically by adult onset of symptoms including variable hyperammonemia and less striking neurological findings which may include intense headache, scotomas, migraine-like episodes, ataxia, slurred speech, lethargy and drowsiness. Serious increased intracranial pressure may occur."},"zh":{"name":"成人起病瓜氨酸血症I型","synonyms":["成人起病瓜氨酸血症1型"],"definition":"瓜氨酸血症I型的一种类型，临床表现为成人期出现的各种症状，包括可变化的高氨血症和不太明显的神经系统表现，包括剧烈头痛、盲点、偏头痛样发作、共济失调、言语含糊不清、嗜睡和困倦。可能出现严重的颅内压升高。"},"tr":{"name":"Yetişkin başlangıçlı sitrülinemi tip I","synonyms":["Geç-başlangıçlı sitrülinemi tip 1","Geç-başlangıçlı sitrülinemi tip I","Erişkin-başlangıçlı 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":"MONDO","code":"0016601","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268546","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":["Adult"],"prevalence":[],"phenotypes":null}