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PKU Academy Newsletter September 2014

PKU Academy Newsletter September 2014
  • Endocrinology and metabolism
  • Phenylketonuria (PKU)

Resource type


Welcome to Issue Six of the PKU Academy Newsletter


In this edition of the PKU Academy Newsletter we report on the highlights of the 2014 Annual Multidisciplinary European PKU Symposium held in Zagreb (Croatia) on the 6th and 7th of June 2014.

We also feature three more of the ‘Perspectives’ interview features which give a personal view from the people behind the presentations and papers.


2014 Annual Multidisciplinary European PKU Symposium

delegates listen

The symposium 'PKU: a lifetime of challenges' took place in Zagreb (Croatia) on the 6th and 7th of June 2014. The two-day program gave an international audience of physicians, dietitians, researchers and others involved in diagnosing or managing PKU the opportunity to attend a variety of presentations and workshops.

Prof Nenad Blau1, scientific coordinator, opened the symposium and welcomed 131 delegates from 24 countries. He introduced the themes of the meeting.

  • Challenges and solutions in the management of PKU: diet, currently available medical therapy and possible future treatments
  • Pathophysiological insights into the disease, its neurocognitive repercussions for patients and strategies to counteract these events
  • Approaches to the management of special clinical conditions such as maternal PKU, adolescence and adulthood
  • The development of European guidelines for PKU management and provision of best care for PKU patients and their families


The symposium was an accredited CME event. Delegates who registered their attendance with EACCME and completed the post-event assessment materials were able to claim up to nine hours of CME credit.

The meeting was endorsed by the Croatian Pediatric Society2, on whose behalf Prof Ivo Barić3 added his welcome.

PKU in Croatia and south-eastern Europe


Dr Urh Grošelj4 gave delegates some background on the status of PKU screening and management in Croatia before comparing and contrasting PKU care across the region.

In Croatia, state-funded screening was introduced in 1978. Follow-up of patients is delivered by a multidisciplinary team, based in the capital, Zagreb. Since 1990, the Croatian PKU Society5 has worked to promote improvements in the quality of life for PKU patients and their families.

PKU screening is not, however universal across the countries of south-eastern Europe, explained Dr Grošelj. Furthermore, a number of countries are falling behind internationally established standards of care. There are great differences between countries and regions in the area which do not necessarily correlate with economic wealth or development.

Dr Grošelj presented results from a survey conducted in the months immediately prior to the symposium. The survey had been completed by professionals responsible for PKU management in the 11 countries of the south-eastern region of Europe6. The survey found that:

  • PKU screening did not take place in four of the 11 countries and only four countries conducted routine genetic diagnosis
  • five countries were unable to provide data on PKU incidence and those that did supplied incidence data which ranged from 1:7,325 to 1:39,338
  • the number of PKU centers in each country ranged from one to six
  • the most commonly used method for assessing Phe levels was fluorimetry
  • tetrahydrobiopterin (BH4) was available in two countries
  • primary care was provided by pediatricians
  • dietitians were members of the care-team in only four countries
  • regular psychological assessments were conducted in six countries
  • five countries had national PKU guidelines and seven had PKU registries
  • there were patients’ PKU societies in seven countries.


It is vital, stated Dr Grošelj that we look to close the gaps in care and bring the countries and regions together. There is a need to increase the education of professionals and encourage cooperation. We need to take all opportunities to learn from other regions of the world facing similar challenges. An essential first step would be to agree minimal acceptable standards for diagnosis and treatment across the region.


1 - Prof Nenad Blau (University Children’s Hospitals, Heidelberg, Germany and Zürich, Switzerland)

2 - Croatian Pediatric Society, Croatian Medical Association, Šubićeva 9, 10000 Zagreb.

3 - Prof Ivo Barić (Department of Pediatrics, University Hospital Center Zagreb, Zagreb, Croatia)

4 - Dr Urh Grošelj (Department of Pediatric Endocrinology, Diabetes and Metabolism, University Children's Hospital, UMC Ljubljana, Ljubljana, Slovenia)

5 - Croatian PKU Association.

6 - The south-eastern geopolitical region comprising: Albania, Bulgaria, Bosnia and Herzegovina, Croatia, Kosovo, Macedonia, Moldova, Montenegro, Romania, Serbia and Slovenia

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Target audience
Paediatricians, Dietitians, nutritionists, Scientists, Healthcare professionals
by Excemed
Endocrinology and metabolism