{"orpha":3402,"name":"Transient tyrosinemia of the newborn","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Transient tyrosinemia of the neonate"],"definition":"A rare disorder of tyrosine metabolism characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age. It shows no clinical symptoms and is detected upon newborn screening. It is often observed in premature infants.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3402/","orphanet_url":"https://www.orpha.net/en/disease/detail/3402","names":{"fr":{"name":"Tyrosinémie transitoire du nouveau-né","definition":"Trouble rare du métabolisme de la tyrosine caractérisé par une tyrosinémie, une hyperphénylalaninémie modérée et une tyrosilurie qui disparaissent généralement après l'âge de 2 mois. Asymptomatique, la maladie est détectée lors du dépistage des nouveau-nés et s'observe souvent chez les enfants prématurés."},"de":{"name":"Transiente Tyrosinämie des Neugeborenen","synonyms":["Tyrosinämie, neonatale transiente"],"definition":"Eine seltene Störung des Tyrosinstoffwechsels, die durch Tyrosinämie, mäßige Hyperphenylalaninämie und Tyrosilurie gekennzeichnet ist, die sich in der Regel nach dem zweiten Lebensmonat zurückbilden. Sie zeigt keine klinischen Symptome und wird beim Neugeborenenscreening festgestellt. Sie wird häufig bei Frühgeborenen beobachtet."},"es":{"name":"Tirosinemia transitoria del recién nacido","synonyms":["Tirosinemia transitoria del neonato"],"definition":"Es un trastorno poco frecuente del metabolismo de la tirosina caracterizado por tirosinemia, hiperfenilalaninemia moderada y tirosiluria que generalmente se resuelve después de los dos meses de edad. No muestra síntomas clínicos y se detecta mediante pruebas de cribado neonatal. A menudo se observa en lactantes prematuros."},"it":{"name":"Tirosinemia transitoria del neonato","definition":"La tirosinemia transitoria del neonato è un disturbo benigno del metabolismo della tirosina, che può essere diagnosticato attraverso lo screening neonatale, che si osserva spesso nei neonati prematuri. È caratterizzata da tirosinemia, iperfenilalaninemia moderata, e tirosiluria, che di solito va incontro a remissione dopo i due mesi di vita."},"nl":{"name":"Voorbijgaande tyrosinemie bij de pasgeborene","synonyms":["Voorbijgaande tyrosinemie bij de neonaat"],"definition":"Een zeldzame aandoening van metabolisme van tyrosine, gekenmerkt door tyrosinemie, matige hyperfenylalaninemie, en tyrosilurie die meestal verdwijnen na de leeftijd van twee maanden. De aandoening vertoont geen klinische symptomen en wordt gedetecteerd bij screening van neonaten. Het wordt vaak waargenomen bij premature zuigelingen."},"pt":{"name":"Tirosinemia transitória do recém-nascido","synonyms":["Deficiência transitória de tirosina oxidase"],"definition":"Patologia rara do metabolismo da tirosina caracterizada por tirosinemia, hiperfenilalaninemia moderada e tirosilúria que normalmente resolvem após os 2 meses de idade. Não apresenta sintomas clínicos e é detetada no rastreio neonatal. É frequentemente observada em bebés prematuros."},"pl":{"name":"Przejściowa tyrozynemia noworodków","synonyms":["Przejściowa tyrozynemia noworodków"],"definition":"Rzadkie zaburzenie metabolizmu tyrozyny charakteryzujące się tyrozynemią, umiarkowaną hiperfenyloalaninemią i tyrozylurią, które zwykle ustępuje po ukończeniu 2 miesiąca życia. Nie daje żadnych objawów klinicznych i jest wykrywane podczas badań przesiewowych noworodków. Często obserwuje się je u wcześniaków."},"cs":{"name":"Tranzientní tyrosinémie novorozenců","synonyms":["Transient tyrosinemia of the neonate"]},"uk":{"name":"Транзиторна тирозинемія новонароджених","synonyms":["Транзиторна тирозинемія новонароджених"],"definition":"A rare disorder of tyrosine metabolism characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age. It shows no clinical symptoms and is detected upon newborn screening. It is often observed in premature infants."},"zh":{"name":"新生儿一过性酪氨酸血症","synonyms":["新生儿一过性酪氨酸血症"]},"tr":{"name":"Yenidoğanın geçici tirozinemi","synonyms":["Yenidoğan geçici tirozinemi"]}},"xrefs":[{"source":"ICD-10","code":"P74.5","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"5C50.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1085704398"},{"source":"MONDO","code":"0018083","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268485","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5388","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":284818,"name":"Disorder of tyrosine metabolism","classifications":[150,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[],"phenotypes":null}