Q & A

Questions & Answers for the European Guidelines?

As you have learned in our last news there has been a first publication on the European Guidelines. As you have been reading this first publication we believe that there are some questions that might have come up. This is why we have put together the first Questions & Answers for the European Guidelines. We want to give you the opportunity to submit questions to us. The most popular questions will be answered by the experts responsible for writing the guidelines. Please submit your questions until March 3rd. We will be working on answering your questions later in March. So keep an eye on …

European Guidelines for Phenylketonuria Published

The European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria (E.S.PKU) is very happy to announce that the European Guidelines for Phenylketonuria have been published in The Lancet Diabetes & Endocrinology. Getting to this point has taken many years of preparation. First in the line was the publication of Closing Gaps in Care. This showed the great need for European Guidelines. Treatment for Phenylketonuria is very different in Europe although it’s always the same disease. After the publication of Closing Gaps in Care the delegates of the E.S.PKU published the Consensus Paper in Orphanet Journal of Rare Diseases. This voices the patients need …

Situation of refugee rare metabolic disorder patients

According to UNHCR data, currently there are more than 65.000.000 people fleeing from war, conflicts and persecution, as much as never before in history. About 20.000.000 people left their native countries and seek shelter abroad, most of them in Europe. It is a matter of fact that there are a significant number of people amongst these refugees, who suffer from any diagnosed or even undiagnosed rare disease, such as Phenylketonuria (PKU) or other treatable metabolic disorders. Patients with such rare disorders need continuous and consistent medical care and – in case of PKU and allied metabolic disorders – dietary treatment, …

The forgotten children

A touching documentary by the German Association for Phenylketonuria and allied inherited disorders (DIG PKU) calls attention to the fate of late diagnosed and untreated patients Phenylketonuria (PKU) is a rare, inherited disorder of protein metabolism. Patients are unable to metabolise the amino acid phenylalanine. Early diagnosed by newborn screening and treated with a low protein diet and an  amino acid substitution, patients can develop normally and live their life to the full. In untreated patients, high phenylalanine-levels in the brain cause severe impairments to mental and physical development. Neurological abnormalities such as hyperactivity, aggressiveness and lack of concentration, fitting …

#GuthrieMemorialDinner – June 28th – PKUDay

International PKU Day is happening on June 28th. Spreading the word about Phenylketonuria is very important to achieve our goals. As we have announced in our last news post we have launched a dedicated website for the International PKU Day. It’s available at www.pkuday.org. For this year there is a special event planned as it’s the 100th anniversary of Robert Guthrie birth. The #GuthrieMemorialDinner is a special occasion and an easy way to show your support for Phenylketonuria. Learn more about the idea: To identify PKU babies affected by Phenylketonuria immediately after birth, Robert Guthrie invented the possibility for newborn screening, also known …

PKU Day Website launched

We are happy to announce the launch of the new PKUDay.org website. PKU Day is coming up June 28th. For this year we have planned some special events and hope that everybody will take part in. Spreading the word about Phenylketonuria (PKU) is important. International PKU Day gives us the chance to promote PKU and make it known better. Please help by sharing the website and social media accounts of International PKU Day. The biggest event for this year will be the “Robert Guthrie Memorial Dinner”. Read all about it on the PKUDay Website.

Call for Papers

Dear professionals, We would like to announce that we created a form where you can upload your abstract for the E.S.PKU conference 2016 in Dublin, Ireland. You can view the submission form here: – Submission Closed -. Submissions will be forwarded to the Scientific Advisory Committee of E.S.PKU. You can find more information about this years conference on the dedicated conference page. Please take note of the deadline: August 20th – last day of call for papers! Also don’t forget to subscribe to the conference newsletter so you don’t miss out on important updates.   If you have questions, you can use …

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E.S.PKU on Rare Disease Day 2016

Today, February 29th, it’s Rare Disease Day 2016! #PKU #RareDiseaseDay Metabolic Disorders, such as Phenylketonuria, is a rare disease. Help raise awareness for PKU so that people understand our situation better. You may want to check the official website for the rare disease day in order to find out what’s happening in your town! We want to share this video by Kevin Alexander to you, showing an inspiring PKU story. Also don’t forget to prepare yourself for June 28th – International PKU Day. Raising more awareness for Phenylketonuria is essential to achieve a better quality of life. To see why that is …

Latest developments on the review of the EU legislation on dietary food (FSMP)

New rules for Food for Special Medical Purposes (FSMP) have passed the EU Parliament A delegated regulation on FSMP will complement the provisions on the Food for Specific Consumer Groups Regulation (EU 609/2013) to ensure appropriate requirements for the composition, labelling and communication of FSMPs and thereby shall guarantee availability and perceptibility of low protein food for dietary management of Phenylketonuria and allied disorders In early 2015 we reported on the current review of EU legislation on dietary food: the former Directive 2009/39/EC (framework directive) has been repealed by a new Regulation (EU) 609/2013 on Food for Specific Consumer Groups (FSG) …

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Rare Disease Day 2016 – Get Active

Rare Disease Day 2016 is held on the last day of February. This means it’s on the 29th of February 2016. As Phenylketonuria is one of those rare diseases it’s important to honor this day and remember others about the existence of rare diseases. It’s important you get active yourself. Visit the official Rare Disease Day Website, or your local Rare Disease organization, for more information. We also want to share with you the official Video for the Rare Disease Day 2016. If you have a moment more to spare we also want to point you to the PKU Day. PKU …