Транзиторна тирозинемія новонароджених
ORPHA:3402· ICD-10 P74.5· Transient tyrosinemia of the newborn
Визначення(English summary)
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.
- Вік початку
- Neonatal