Growing up with PKU, ‘the challenge is also responding to adult needs’

by time news

Milan, 23 March (time.news Health)

Growing up with PKU. Three letters behind which hides the most widespread in Italy among rare diseases: la Phenylchetonuria. Considering all the variants, it affects one child for every 2,581 births. In Italy since 1974 it is one of the diseases that are sought with mass neonatal screening (available since 1992 throughout the national territory). Early diagnosis means having undergone the correct therapy, which consists of a strict diet with a reduced intake of phenylalanine. And it means growing with normal intellectual abilities and adaptive functions, but also being carriers of requests and needs related to quality of life.


It means living with the limitations related to the necessary rigidity of dietary treatment and for an adult in the context of his social and working life it is not at all easy. It means needing to be followed for life keeping away the risk of a possible deterioration of mental functions deriving from the difficulty of maintaining strict adherence to dietary indications. In terms of assistance, the experts explain, this is precisely why it is needed increase and train specialized and multidisciplinary teams for the transition into adulthood, manage the transition from a medicine for children and adolescents to super-specialized and sectorialized medicine like that of adults.

Today “centers for adults are a reality in very few cases – he points out Manuela Vaccarotto, spokesperson for the 6 main Italian patient associations dedicated to PKUs, today during an online conference organized by Omar (Observatory for rare diseases) with the non-conditioning contribution of BioMarin – and there is no protocol dedicated to the transition, a very delicate moment “. PKU is a complex disease,” due to genetic mutations that make ineffective the activity of the enzyme necessary to metabolize phenylalanine (Phe), an essential amino acid present in dietary proteins “, explains Vincenzo Leuzzi, Professor of Child Neuropsychiatry at the La Sapienza University of Rome.

“Without prompt diagnosis and treatment from the first weeks of life, the disease manifests itself with a significant slowdown and arrest of normal neurological development which results in severe intellectual disability and neurological deficits in the following months. The institution of mass newborn screening and preventive treatment have effectively led to the disappearance of this disease as a cause of disability. Today – continues Leuzzi – the goal is more advanced and is to improve the quality of life of people with PKU, who can live like their peers free from disease “.

What are the numbers of Phenylketonuria? “Recent work shows that there are around 450,000 patients worldwide and between 40 and 45 thousand are European patients. So the PKU involves a very significant number of people and families “, highlights the expert.” We also have a population of subjects approaching 60 years “. Over the years” we have laboriously developed a consensus on the diagnosis, the treatment and monitoring of phenylketonuric patients “, to smooth out the original variability that existed in taking care according to the country of birth.

Even today, “however, there are some things that don’t work as they should – says Leuzzi – For example there is neither an Italian nor a European register for the PKU, with all the valuable information it can give. At the Higher Institute of Health there is only one register in which the disease is within a broader grouping of diseases “, reflects the specialist, citing among the challenges” for the next guidelines “that of” being able to package a treatment that is the most suitable for every single phenylketonuric patient “. PKU becomes a paradigm for the health organization of screening diseases, for many of which clinical monitoring has a permanent character that crosses all age groups, from newborn to elderly .

These issues, the experts point out, are supranational and the development of an international network for PKU it is a “crucial though still completely virtual goal”. This was also discussed today during the online event in which specialists, patient associations and institutions – including European ones as evidenced by the presence of MEP Rosanna Conte who promised “commitment and listening” – had the opportunity to discuss on Phenylketonuria. “From the moment we offer early diagnosis, we must equally guarantee access to care, whether it is for children, adolescents or adults – highlights the senator Paola Binetti, president of the parliamentary intergroup for rare diseases – We offer our collaboration to network, working together to improve things “.

“The lifesaving therapy for PKU patients is one very low protein diet: no meat, fish, eggs or dairy products. A strictly controlled diet, supplemented with foods for special medical purposes. – he explains Maria Teresa Carbone, Uos Metabolic and rare diseases of the Aorn Santobono Pausillipon in Naples – The great restrictions and poor palatability of supplements can represent an obstacle to therapeutic adherence. For this reason, it is essential that patients and families be guaranteed a correct and comprehensive care, educational and psychological support “.

“A multidisciplinary team is necessarily needed,” he adds Albina Tummolo, Giovanni XXIII pediatric hospital in Bari, Uoc Metabolic Diseases and Medical Genetics, “which guarantees a correct management ranging from the control of phenylalanine levels in the blood to neurological follow-up, from diet modulation to psychological support. For this reason it is essential that the centers have dedicated resources and national standards, which are even more necessary today than we are preparing to welcome a new enzyme replacement therapy, recently available for adult patients who do not have adequate control of phenylalanine values ​​despite diet therapy “.

Therapeutic adherence problems, argues Alberto Burlina, director of the Hereditary Metabolic Diseases Unit of the Padua University Hospital, “usually begin with adolescence. Patients with uncontrolled levels of phenylalanine in the blood show quite severe symptoms as a confusion, reduced concentration, poor attention, anxiety, irritability, memory deficit, headache. it is essential to accompany adolescents and families in change“.

“Adult patients – Burlina lists – must be guaranteed an equally global care, through the necessary specialties (from gynecology for young women who want to face a pregnancy to the endocrinologist, from the gastroenterologist to the sports doctor) coordinated by a capable metabolist to have the big picture “. There is a need, relfette Vaccarotto, “for resources dedicated to the structuring of the new centers, but also pediatric centers in some cases are in precarious situations. There is a need to standardize patients’ rights in terms of access to treatment and food for special medical purposes. There is a need for a network that allows patients to be able to move around Italy and Europe, with the certainty of being able to access the reference centers in case of need. And there is a need for dedicated university training “.

“The associations’ requests must be listened to carefully”, comments La deputy Fabiola Bologna, who took part in the round table discussion, together with – among others – Leonardo Salvatore Penna, president of the Intergroup for disabilities; Roberto Novelli, Social Affairs Commission of the Chamber; Giuseppe Limongelli, head of the Rare Diseases Coordination Center of the Campania Region; Niko Costantino and Simonetta Menchetti, spokespersons for the working table of the Italian associations of patients with PKU. “The needs indicated must find, where possible, the right answer also within the Parliament – concludes Bologna – The realization of a European network could represent a turning point, allowing people with PKU to be able to move for study or work reasons. , without being excessively conditioned by the pathology “.

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