Identification of PKU

Identification of PKU

Children with PKU are perfectly normal at birth only they are incapable of satisfactorily converting the vital amino acid, phenylalanine, to another amino acid, tyrosine, like the human body is normally able to.

When a child is born it is the midwife's responsibility to have a blood sample taken. Until 2002, the most widespread analytical method was the so-called "heel prick test" or the Guthrie test.

This test is performed on all newborn babies within the first five to seven days of their lives on a routine basis. Today, the mother and her baby are normally discharged from the hospital earlier than this and so the midwife must see to it that the test is performed before.

This can either be done at home or at the hospital. If the blood sample reveals elevated phenylalanine levels the family is immediately referred to the Danish J.F. Kennedy Institute, which is in charge of the Danish research into PKU-related diseases. If the child is diagnosed with PKU, dietetic treatment is initiated. The J.F. Kennedy Institute is a government research institute under the Ministry of Social Affairs and offers a unique combination of research and treatment.

The institute sets up the required diet according to the phenylalanine levels found and the child's height and weight. There is constant follow-up on the phenylalanine levels to determine if it is necessary with any changes in the dietary treatment strategy. The J.F. Kennedy Institute provides support to the PKU family in all matters, including dietary guidance, medical follow-up, psychological follow-up, Further details about the J.F. Kennedy Institute can be found on their website at Kennedy.dk

The History

Since 1959, the treatment against PKU-related diseases has involved following a strict dietary strategy primarily aimed at avoiding proteins.


Read more about the history about the PKU treatment

The History

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