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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