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PKU Talks: The expert’s voice

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“PKU TALKS: THE EXPERT’S VOICE” is the periodical column on Phenylketonuria, created by Piam in collaboration with some of the major international specialists.

Today an interview with Dr. Marco Spada, Director of the Complex Paediatrics Structure Azienda Ospedaliero – Universitaria Città della Salute e della Scienza di Torino, about the importance of early diagnosis of Inborn Metabolic Diseases and of meetings dealing with these issues, such as the annual congress SIMMESN (Italian Society of Inborn Metabolic Diseases and Neonatal Screening).

The PKU is the most studied among the Inborn Metabolic Diseases, but there are still challenging aspects: it is important to diagnose the correct form of PKU to define the correct tolerance and design the right diet.


“Could you comment on the value of last SIMMESN for sharing knowledge and advances in the management of metabolic diseases?

These kind of meeting are very important: it is the unique situation in which physicians, biologists, geneticists meet to share their experience.

The most common topic discussed from specialists in this field, in meetings such as SIMMESN, is to focus on the main problem of this disorder: the importance of early diagnosis.


Although PKU has been known for a long time and extensively characterized, it still holds some important aspects to gain insights on?

PKU seems a simple challenge but it’s not at all, it’s important to get the right classification of any patients: classical PKU patient, mild PKU patient… It’s even more important to have this diagnosis very early, in the first months of life, to define the real proteine tolerance of PKU patients and to design the exact dietary programme.”

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