{"orpha":247582,"name":"Citrin deficiency","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":"A rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-247582/","orphanet_url":"https://www.orpha.net/en/disease/detail/247582","names":{"fr":{"name":"Déficit en citrine","definition":"Le déficit en citrine est un trouble rare du cycle de l'urée, autosomique récessif, caractérisé dans la forme néonatale (cholestase intrahépatique néonatale par déficit en citrine), par une cholestase transitoire et une dysfonction hépatique variable. Dans la forme apparaissant chez l'adulte (citrullinémie type II) la maladie est caractérisée par des épisodes récurrents d'hyperammoniémie et des manifestations neuropsychiatriques associées."},"de":{"name":"Citrin-Mangel","definition":"Der Citrin-Mangel ist ein seltener, autosomal-rezessiv vererbter Defekt im Harnstoffzyklus und klinisch gekennzeichnet durch rezidivierende Episoden von Hyperammonämie und assoziierten neuropsychiatrischen Symptomen in der adulten Form (Zitrullinämie Typ 2; s. dort) und durch transiente Cholestase und unterschiedlich starke Leberdysfunktion in der neonatalen Form (neonatale intrahepatische Cholestase durch Citrin-Mangel; s. dort)."},"es":{"name":"Deficiencia de citrina","definition":"Es un defecto del ciclo de la urea, autosómico recesivo y poco frecuente, que se caracteriza clínicamente por episodios recurrentes de hiperamonemia y síntomas neuropsiquiátricos asociados, en la forma de aparición en el adulto (citrulinemia tipo 2), y por colestasis transitoria y disfunción hepática variable en la forma neonatal (colestatis intrahepática neonatal por déficit de citrina)."},"it":{"name":"Deficit di citrina","definition":"Il deficit di citrina è un difetto raro del ciclo dell'urea, ad eredità autosomica recessiva, caratterizzato da episodi ricorrenti di iperammoniemia e sintomi neuropsichiatrici nella forma a esordio nella vita adulta (citrullinemia tipo 2; si veda questo termine), colestasi transitoria e disfunzione epatica variabile nella forma neonatale (colestasi intraepatica neonatale da deficit di citrina; si veda questo termine)."},"nl":{"name":"Citrinedeficiëntie","definition":"Een zeldzaam, autosomaal recessief defect van de ureumcyclus, klinisch gekarakteriseerd door terugkerende episodes met hyperammoniëmie en geassocieerde neuropsychiatrische symptomen bij de vorm met aanvang in de volwassenheid (citrullinemie type II), en door transiënte cholestase en variabele leverdisfunctie bij de neonatale vorm (neonatale intrahepatische cholestase door citrinedeficiëntie)."},"pt":{"name":"Deficiência de citrina"},"pl":{"name":"Niedobór cytrynianu"},"cs":{"name":"Deficit citrinu"},"uk":{"name":"Дефіцит цитрину","definition":"A rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type II), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency)."},"zh":{"name":"柠檬酸缺乏症","definition":"一种罕见的常染色体隐性遗传的尿素循环缺陷，临床表现包括成人发病型（瓜氨酸血症II型）：反复发作的高氨血症和相关的神经精神症状，以及新生儿型（瓜氨酸缺乏所致新生儿肝内胆汁淤积）：短暂性胆汁淤积和可变的肝功能不全表现。"},"tr":{"name":"Sitrin eksikliği"}},"xrefs":[{"source":"MONDO","code":"0016602","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16602","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1997910","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":187,"name":"Citrullinemia","classifications":[150,156]}],"children":[{"orpha":247585,"name":"Citrullinemia type II","type":"Disease"},{"orpha":247598,"name":"Neonatal intrahepatic cholestasis due to citrin deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}