Postnatal screening, symptoms and confirmation

POSTNATAL SCREENING

In France, the Guthrie test takes blood from babies’ heel 48 or 72 hours after the birth, like this, screening of rare diseases like Phenylketonuria can be done.

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

SYMPTOMS

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 the 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.