{"orpha":247585,"name":"Citrullinemia type II","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Adult-onset citrin deficiency","Adult-onset citrullinemia type 2","Adult-onset citrullinemia type II","CTLN2","Citrullinemia type 2"],"definition":"A severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-247585/","orphanet_url":"https://www.orpha.net/en/disease/detail/247585","names":{"fr":{"name":"Citrullinémie type II","synonyms":["CTLN2","Citrullinémie type 2","Citrullinémie type 2 de l'adulte","Citrullinémie type II de l'adulte","Déficit en citrine de l'adulte"],"definition":"La citrullinémie type II est un sous-type sévère du déficit en citrine survenant à l'âge adulte (entre 20 et 50 ans) et caractérisé sur le plan clinique par des épisodes récurrents d'hyperammoniémie et des manifestations neuropsychiatriques associées, telles que des délires nocturnes, un état confusionnel ou de somnolence, une agitation, une désorientation, une perte de la mémoire, un comportement anormal (agression, irritabilité et hyperactivité), des convulsions et un coma."},"de":{"name":"Zitrullinämie Typ II","synonyms":["CTLN2","Citrin-Mangel mit Beginn im Erwachsenenalter","Citrullinämie Typ II","Zitrullinämie Typ 2","Zitrullinämie mit Beginn im Erwachsenenalter, Typ 2","Zitrullinämie mit Beginn im Erwachsenenalter, Typ II","Zitrullinämie, adulte, Typ 2"],"definition":"Die Zitrullinämie Typ 2 ist ein schwerer Subtyp des Citrin-Mangels (s. dort) und klinisch gekennzeichnet durch Beginn im Erwachsenenalter (20-50 Jahre), rezidivierende Episoden von Hyperammonämie und assoziierte neuropsychiatrischen Symptome, wie nächtliches Delirium, Konfusion, Unruhe, mangelnde Orientierung, Schläfrigkeit, Gedächtnisverlust und abnormes Verhalten (Aggression, Irritabilität und Hyperaktivität), Krämpfe und Koma."},"es":{"name":"Citrulinemia tipo II","synonyms":["CTLN2","Citrulinemia tipo 2","Citrulinemia tipo 2 de inicio en el adulto","Citrulinemia tipo II de inicio en el adulto"],"definition":"Es un subtipo grave del déficit de citrina que se caracteriza clínicamente por su aparición en la edad adulta (entre los 20 y los 50 años de edad), episodios recurrentes de hiperamonemia y síntomas neuropsiquiátricos asociados, tales como delirio nocturno, confusión, inquietud, desorientación, modorra, pérdida de memoria, comportamiento anómalo (agresividad, irritabilidad e hiperactividad), convulsiones y coma."},"it":{"name":"Citrullinemia, tipo II","synonyms":["CTLN2","Citrullinemia a esordio nell'età adulta, tipo 2","Citrullinemia a esordio nell'età adulta, tipo II","Citrullinemia, tipo 2","Deficit di citrina a esordio nell'età adulta"],"definition":"La citrullinemia tipo 2 è un sottotipo grave del deficit di citrina (si veda questo termine) caratterizzato da un esordio nella vita adulta (tra i 20 e i 50 anni), episodi ricorrenti di iperammoniemia e sintomi neuropsichiatrici correlati, come il delirio notturno, la stato confusionale, l'irrequietezza, il disorientamento, la sonnolenza, la perdita di memoria, i disturbi comportamentali (aggressività, irritabilità e iperattività), le convulsioni e il coma."},"nl":{"name":"Citrullinemie type II","synonyms":["Citrullinemie type 2 met aanvang op volwassen leeftijd","Citrullinemie type II met aanvang op volwassen leeftijd","CTLN2","Citrinedeficiëntie met aanvang op volwassen leeftijd","Citrullinemie type 2"],"definition":"Een ernstig subtype van citrinedeficiëntie, klinisch gekarakteriseerd door aanvang in de volwassenheid (tussen de leeftijd van 20 en 50 jaar), terugkerende episodes met hyperammoniëmie en geassocieerde neuropsychiatrische symptomen zoals nachtelijk delirium, verwardheid, rusteloosheid, desoriëntatie, slaperigheid, geheugenverlies, abnormaal gedrag (agressie, prikkelbaarheid, en hyperactiviteit), insulten, en coma."},"pt":{"name":"Citrulinémia, tipo II"},"pl":{"name":"Citrulinemia typu II","synonyms":["Citrulinemia typu 2","Citrulinemia typu 2 o początku w wieku dorosłym","Citrulinemia typu II o początku w wieku dorosłym","CTLN2","Niedobór cytrynianu o początku w wieku dorosłym"]},"cs":{"name":"Citrulinémie II. typu","synonyms":["CTLN 2","Citrulinémie, typ 2","Citrinový deficit s nástupem v dospělosti","Citrulinémie 2. typu s nástupem v dospělosti","Citrulinémie II. typu s nástupem v dospělosti"]},"uk":{"name":"Цитрулінемія, тип II","synonyms":["Дефіцит цитрину у дорослих","Цитрулінемія 2 типу, що починається у дорослих","Цитрулінемія, що починається у дорослих, тип II","Цитрулінемія типу 2","CTLN2"],"definition":"A severe subtype of citrin deficiency characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma."},"zh":{"name":"瓜氨酸血症II型","synonyms":["成人起病瓜氨酸血症II型"],"definition":"希特林缺乏症的一种严重亚型，临床特征为成人期发病（20岁和50岁），反复出现高氨血症和相关的神经精神症状，如夜间谵妄、神志不清、烦躁不安、定向障碍、嗜睡、记忆缺失、行为异常（攻击性、易激惹和多动），癫痫发作和昏迷。"},"tr":{"name":"Sitrülinemi tip II","synonyms":["CTLN2","Sitrülinemi tip 2","Erişkin-başlangıçlı sitrin eksikliği","Erişkin-başlangıçlı sitrülinemi tip 2","Erişkin-başlangıçlı sitrülinemi tip II"]}},"xrefs":[{"source":"OMIM","code":"603471","qualifier":"E","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":"1572086295"},{"source":"MONDO","code":"0016603","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538053","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1863844","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10215","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":247582,"name":"Citrin deficiency","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":101940,"name":"Rare metabolic liver disease","classifications":[156,183]}],"children":[],"genes":[{"symbol":"SLC25A13","name":"solute carrier family 25 member 13","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301360[PMID]","hgnc":"10983","ensembl":"ENSG00000004864","omim":"603859","loci":["7q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-07-04","source":"20301360[PMID]_30588060[PMID]_18620775[PMID]_11153906[PMID]","terms":[{"hpo":"HP:0008281","label":"Acute hyperammonemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045082","label":"Decreased body mass index","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011966","label":"Elevated plasma citrulline","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100738","label":"Abnormal eating behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012164","label":"Asterixis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031258","label":"Delirium","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000746","label":"Delusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002329","label":"Drowsiness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007159","label":"Fluctuations in consciousness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000738","label":"Hallucinations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003077","label":"Hyperlipidemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003075","label":"Hypoproteinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030166","label":"Night sweats","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000711","label":"Restlessness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030765","label":"Sleep terror","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002181","label":"Cerebral edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003233","label":"Decreased HDL cholesterol concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012569","label":"Delayed menarche","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010529","label":"Echolalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000805","label":"Enuresis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002480","label":"Hepatic encephalopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001395","label":"Hepatic fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001402","label":"Hepatocellular carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003124","label":"Hypercholesterolemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100785","label":"Insomnia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100754","label":"Mania","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null}]}}