Postnatal screening, symptoms and confirmation


In France, the Guthrie test takes blood from babies’ heel 48 or 72 hours after the birth, thanks to this test we can detect rare diseases like Phenylketonuria.

If the level of phenylalanine is high, doctors must do other tests (blood and urine analyses): it identifies toxic metabolites and determines the type of Tyrosinemia: 1, 2 or 3.


The main symptoms of the Tyrosinemia manifest between the birth and the first three months of a new-born.

The acute type of Tyrosinemia is characterized by:

  • Jaundice (icterus)
  • Abdomen distension (cirrhosis)
  • Blood in stools
  • Nose bleed
  • Vomiting
  • Diarrhoeas

The kid suffering from Tyrosinemia is also affected by a growth retardation and sometimes nervous breakdowns (irritability, members’ pains).

Some of the symptoms can manifest later:

  • Backwardness of mental development
  • Skin lesions
  • Ophthalmological problems

In the chronic form symptoms develop gradually.