PKU is an autosomal recessive genetic condition that affects 1 in 10,000 babies in the UK.
Babies with this condition are unable to metabolise the amino acid, phenylalanine. Untreated babies develop serious, permanent mental disability.
Ongoing treatment with a strict low protein diet commenced before 21 days of age prevents disability. A specialist paediatrician will see the screen positive babies.
It is vital that women with PKU who are planning a pregnancy are counselled about the importance of adhering to a strict low protein diet, to prevent the high risk of miscarriage and severe fetal damage which would occur on a high protein diet.
PKU links
National Society for Phenylketonuria‘PKU is suspected’ (pdf leaflet for parents)
