Treatment for adult metabolic patients is insufficient

An increasing adult PKU population requires urgent action to avert a severe treatment crisis In Europe, neonatal screening for Phenylketonuria (PKU) has been introduced over a period of 50 years between 1964 (Belgium) and 2015 (Finland). Until the early 1990s, PKU was known as a paediatric disease. Thanks to timely diagnosis and efficient treatment options, patients have a normal life expectancy. However, the treatment of adults is still neglected even in those countries with the longest screening history. Healthcare systems are not adequately prepared for increasing patient numbers. More and more adult patients lack access to age-appropriate treatment in metabolic …

E.S.PKU Conference 2019

We are happy to host our conference in Izmir, Turkey for this year. Turkey hosts one of the biggest PKU communities and we have been keen to come back to Turkey for the last couple of years. Learn more about what to expect from our annual conference this year! There are still a couple of days left to book your ticket for the annual E.S.PKU conference. We also have already published the full conference program. This makes it easier for you to see what interesting topics will be presented this year besides meeting all those people from around the globe. …

European Guidelines Version 2

As with every publication it’s important to keep it up to date. This is why we are very proud that the work of the second edition of the European Guidelines is already underway. The kickoff for this project has taken place at the E.S.PKU Conference 2018 in Venice, Italy. As announced by Prof Francjan van Spronsen in the very beginning of the first European guidelines project – even when you are finished there is still a lot of work to be done. Now that those guidelines have been completed work is necessary to get them implemented in every country. This …

First winner of the Sheila Jones Award

Laura Petreuș is the first winner of the Sheila Jones Award. An patient advocate award launched by the E.S.PKU in 2017. You can learn more about the award on our dedicated page: Sheila Jones Award. Be sure to check back at a later time to view the award ceremony that took place at #ESPKU2018.

Addressing the high burden and significant unmet needs in Phenylketonuria (PKU)

Read this executive summary and download the full report. This Policy Roundtable, organised by the European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria (ESPKU), was hosted by MEPs Deirdre Clune (Ireland, EPP) and Nessa Childers (Ireland, S&D). Objectives to have an informed discussion on phenylketonuria (PKU) and its impact; to support understanding of the true nature of the condition; to identify the unmet needs in the area of PKU; to gather expert opinions on what can still be done to advance the interests of people living with PKU; to generate political momentum. Potential areas of action, arising from …

ESPKU calls for new born screening for every new born worldwide!

At the occasion of International #PKUDay 2018, ESPKU calls to implement and maintain newborn screening for all newborns around the world! 1) Agata Bak, Spain2) Duncan Noble-Nesbitt, United Kingdom3) Sanja Peric, Croatia4) Kate Hall (ISNS), UK 5) Laura Momme, Denmark6) Malgorzata Henek, Poland7) Paul van Berkel, The Netherlands8) Tobias S. Hagedorn, Germany

Pegvaliase (PalynzigTM) has been approved

Fresh from the Press: Pegvaliase (now called PalynzigTM) has been approved by the FDA for use in adult PKU patients in the USA with phenylalanine > 600 micromol/l. Francjan J van Spronsen, Maria Gizewska, Anita MacDonald, Kirsten Ahring Why is a different treatment needed? ‘You are not lucky when you have PKU’ I explained to a colleague. He replied “Why? What you’ve always told me is that when left untreated, patients with PKU have severe developmental disability, epilepsy, and difficult behavioural issues. Now they lead an almost normal life by following a diet. This does not seem too bad a …

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Announcing: Sheila Jones Award

E.S.PKU is very happy to announce the launch of the “Sheila Jones Award”. It’s the first time there is a patient advocate award in the field of PKU and it will be presented at this years annual E.S.PKU conference. If you are interested to learn more about the award and how to submit your entry follow this link: Sheila Jones Award Watch this video for a brief introduction to the award:

PKUDay 2018

International PKU Day is taking place on June 28th. This year once again marks a special year for this important day for Phenylketonuria.  It’s time to celebrate 100th birthday of Horst Bickel. As one of the grounding farther for the PKU diet the E.S.PKU has published the report “The three landmarks of phenylketonuria” once again. You can find it on the official PKUDay website: https://www.pkuday.org/about/pku-day-2018/. Of course you are very keen to learn more about your plans for International PKU Day. Getting it online on the PKUDay website will increase the attention for it – it’s easy – just contact the …