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Transient tyrosinemia of the newborn

Disease definition

Transient tyrosinemia of the newborn is a benign disorder of tyrosine metabolism detected upon newborn screening and often observed in premature infants. It shows no clinical symptoms. It is characterized by tyrosinemia, moderate hyperphenylalaninemia, and tyrosiluria that usually resolve after 2 months of age.

ORPHA:3402

Classification level: Disorder
  • Synonym(s):
    • Transient tyrosinemia of the neonate
  • Prevalence: -
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: P74.5
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: 5388
  • MedDRA: -

Detailed information

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