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[HEALTH] · Italy · 8 sources

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Part of situation: Italian healthcare management of metabolic and chronic renal (2 clusters)

Italy faces challenges in long-term management of PKU patients

phenylketonuria PKU neonatal screening metabolic disorders dietary therapy

In Italy, approximately one in 5,000 newborns is affected by phenylketonuria (PKU), a rare genetic metabolic disorder caused by a defect in the Pah gene. This defect prevents the body from properly processing phenylalanine, an amino acid found in protein, which can lead to toxic accumulation and severe neurological damage or intellectual disability if not treated immediately.

While mandatory neonatal screening—conducted via a blood test between 48 and 72 hours after birth—has successfully prevented the most severe cognitive consequences, experts warn that significant challenges remain. During a recent event in Rome, researchers highlighted the difficulties patients face in maintaining the strict, lifelong low-phenylalanine diet required for management.

Alberto Burlina, a senior researcher at the University of Padua, noted that the success of early screening has created a false sense of security that the issue is resolved. He emphasized an unmet medical need regarding the lack of structured transition pathways for patients as they move from pediatric to adult care, which often leads to a breakdown in treatment adherence.

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Alberto Burlina · Italy · University of Padua

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Sources

Fenilchetonuria, ‘screening neonatale evita danni neurologici ma resta nodo continuità cure’ [www.notizie.it]
Fenilchetonuria, 'screening neonatale evita danni neurologici ma resta nodo continuità cure' [www.adnkronos.com]
L’INTERVENTO L’UE sta cambiando in modo irreversibile [lavoce.hr]
L’enigma della fertilità: cosa cambia tra Occidente e Sud del mondo [ladiscussione.com]
Fenilchetonuria, 'screening neonatale evita danni neurologici ma resta nodo continuità cure' [mantovauno.it]
Fenilchetonuria, 'screening neonatale evita danni neurologici ma resta nodo continuità cure' [www.sardegnalive.net]
Fenilchetonuria, 'screening neonatale evita danni neurologici ma resta nodo continuità cure' - il Fatto Nisseno - Caltanissetta notizie, cronaca, attualità [www.ilfattonisseno.it]
Fenilchetonuria, ‘screening neonatale evita danni neurologici ma resta nodo continuità cure’ [www.ilsannioquotidiano.it]