Adnkronos (Adnkronos) – In Italy, on average, one in every 5 newborns is affected by phenylketonuria (PKU), a rare genetic metabolic disorder inherited in an autosomal recessive manner. It is caused by a defect in the PAH gene, which impairs the production of the enzyme phenylalanine hydroxylase. This prevents the proper disposal of phenylalanine, an amino acid found in protein foods, which accumulates in the blood and becomes toxic to the central nervous system.
Without timely intervention in the first days of life, phenylalanine accumulation causes early and progressive neurological damage, resulting in severe intellectual disability.
Among European countries, Italy has a significant incidence, but today, thanks to mandatory newborn screening—conducted by taking a drop of blood between 48 and 72 hours after birth—early diagnosis prevents the most severe cognitive consequences.
Despite this, clinical management of patients throughout their lives still presents critical challenges, often caused by the difficulty of maintaining the diet recommended by specialists and the underestimation of related risks. This was discussed today in Rome, during a media tutorial dedicated to addressing the social burden of the disease and the unmet needs of patients.
“Newborn screening and early management have transformed PKU from a disabling disease to a manageable chronic condition, but over the years this success has created the illusion that the problem has been solved,” says Alberto Burlina, senior researcher at the University of Padua.
It is important to remember that there is still a significant unmet medical need: daily management requires a rigorous and complex lifelong low-phenylalanine diet, while the lack of structured transition pathways into adulthood leads a significant proportion of patients to withdraw from clinical monitoring, exposing them to long-term neurocognitive and psychosocial complications. Prolonged lack of nutritional control can lead to cognitive decline, difficulty concentrating, mood swings, and anxiety. Therefore, ongoing, consistent multidisciplinary care is essential, capable of accompanying patients from childhood to adulthood, thus promoting adherence to recommendations.
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