Every hour of every day another baby experiences the fate of preventable brain damage.
Worldwide, approximately 35 babies are born each day at risk of developing severe and irreversible brain damage by the age of one due to phenylketonuria (PKU).
This outcome is completely preventable with the aid of universal newborn screening and immediate treatment. Unfortunately this screening exists only in a limited number of developed countries, exposing to 24 babies each day the tragic fate of lifelong brain damage that could otherwise be prevented with the prick of a heel.
PKU is a rare genetic condition affecting 1 in 15, 000 babies worldwide, routinely diagnosed by the “heel prick’ test in countries such as Australia, Canada, New Zealand, United Kingdom and most countries in Europe. Of these babies 35% are fortunate enough to live in a country where both newborn screening and access to timely lifelong treatment gives them a chance of a normal life. Even in developed countries, most patients do not have access to the full range of treatments available . Currently, there is no cure for PKU and those with this condition will need to carefully manage their condition for their entire life.
The Global Association for PKU has been formed to close gaps in care for people who have PKU across the world. This means improving access to screening, treatment and seeking a cure.
PKU is a rare genetic disorder in which the body is unable to correctly metabolise an amino acid in protein, phenylalanine. Phenylalanine is a neurotoxin so left untreated people it builds up in the brain causing serious neurological symptoms including seizures and intellectual impairment.
PKU can be simply and quickly diagnosed via the “heel prick” test and if treatment begins immediately most people with this condition will live healthy lives. Currently 65% of babies born in the world miss out on this opportunity.