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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 Prof. GiancarloLa Marca on the importance of neonatal screening, on currently available therapies and on scientific research.

Prof. La Marca is Associate Professor of Clinical Chemistry, Department of Experimental and Clinical Biomedical Sciences at the University of Florence and Head of Newborn Screening, Clinical Chemistry and Pharmacology Lab of Meyer Children’s Hospital, Florence.

“What is the importance of newborn screening for PKU and how broadly is the screening performed?

The newborn screening for PKU was the first population screening worldwide. The screening for this kind of aminoacidopathies started at the beginning of 1960s, when B. Guthtrie developed a very easy assay for the detection of the most common aminoacidopathies disorders. Starting from this historical point, the screening for PKU started everywhere.

In Italy, the first pilot project for early detection of PKU, started at the beginning of 1970s and later on, at the beginning of 1990s, the screening for PKU, Congenital Hypothyroidism, Cystic Fibrosis became mandatory by law.

PKU is a challenging topic and still a matter of investigation and insight-gaining. Could you comment on the contents of SIMMESN 2019?

PKU was the first disorder with expanding newborn screening for the population. Since more than 50 years this disorder is identified worldwide and this is the reason why most of researchers are still searching for new therapies, giving the chance to treat the patients and give them the possibility to have a very good quality of life. There are many different treatments available worldwide in literature and many others are coming, starting from different kinds of diets, food supplements, enzymatic treatment and, in the future, gene therapy. 

This is the key topic of the most worldwide diffused meetings concerning rare disorders and PKU is the prototype and the key center disorder for which researchers are searching for new therapies.”

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